07p220

7p22

Publication Details

  • Atkin J F, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 755.
    46,XY,t(7;15)(p22;q22)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Baccichetti C, Artifoni L, Zanardo V: Deletions of the short arm of chromosome 7 without craniosynostosis. Clin. Genet. 21:348-349, 1982. [PubMed: 7116680]
    Parental karyotypes were normal. Patient C. P. G. was 2 years old.
    Aberration: Terminal deletion
    Negative band

  • Baeteman M A, Philip N, Mattei M G, Mattei J F: Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7. Clin. Genet. 27:564-569, 1985. [PubMed: 3839444]
    Patient 4 was a stillborn:
    7qter -> 7p22::7q21 -> 7qter.
    Aberration: Recombinant chromosomes
    Index Terms: Still born (premature)
    Negative band

  • Bendel R P, Baldinger S, Millard C, Arthur D C: Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation. J. Med. Genet. 19:313, 1982. [PMC free article: PMC1048905] [PubMed: 7120324]
    46,XX,t(7;22)(p22;q13).,46,XX,-7,+der(7)t(7;22)(7qter->7p22::22q13->22qter)mat.,47,XX,+der(22)t(7;22)(p22;q13)mat.
    Aberration: Simple translocation
    Negative band

  • Biesecker L G, Cox B, Glover T W: Severe anomalies associated with ring chromosome 7. AJMG 40:429-431, 1991. [PubMed: 1746606]
    mos46,XY,r(7)(p22q36)de novo(35/40 cells)/46,XY,partial dup r(7)de novo(2/40)/46,XY,dup r(7)de novo(1/40)/46,XY,der smaller r(7)de novo(1/40)/45,XY,-7(1/40).
    The newborn infant had polyasplenia sequence, intrauterine growth retardation, cutaneous nevi among other anomalies. Patient died 28 after birth.
    Aberration: Ring chromosome
    Index Terms: Polyasplenia sequence
    Negative band

  • Same entry as in 02q330,05q320 (Boue and Gallano, 1984).

  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(7;8)(p22;q12); t(7;9)(p22;p24); t(7;13)(p22;q14); t(7;15)(p22;q22).
    Aberration: Reciprocal translocation
    Negative band

  • Breg W R, Allderdice P W, Miller D A, Miller O J: Quinacrine fluorescence patterns and terminal DNA labelling of human C group chromosomes. Nature (New Biol.) 236:76-78, 1972. [PubMed: 4502457]
    Zackai E H, Breg W R: Ring chromosome 7 with variable phenotypic expression. Cytogenet. Cell Genet. 12:40-48, 1973. [PubMed: 4145271]
    Zackai E H, Stolle C A.: A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. AJHG 63:1277-1281, 1998. [PMC free article: PMC1377538] [PubMed: 9792855]
    Case No. JC (091069) in the report of Breg et al.
    46,XY,r(7).
    Cases 1 and 2 in this report.
    45,XY/46,XY,r(7)(p22q36).&45,XY,-7/46,XY,r(7)(p22 -> q36).
    Aberration: Ring chromosome
    MIM#: 101400
    Index Terms: Saethre-Chotzen syndrome
    Negative band

  • Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    46,XX,t(7;11)(p22;q23).&"46,XX,der(7)der(11)t(7;11)(p22;q23)mat."
    Aberration: Reciprocal translocation
    Negative band

  • Cannizzaro L A, Ladda R L, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 769.
    46,XY,t(7;19)(p22;q13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Caramia G M, Baroncini A, Osimani P, Forabosco A: Ring chromosome 7: report of the fifth case. Europ. J. Ped. 149:475-476, 1990. [PubMed: 2189730]
    mos46,XY/46,XY,r(7)(p22q36).
    The 13-year-old boy presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi.
    The most frequent findings in the four patients described so far were short stature, microcephaly, and dermatological abnormalities.
    Aberration: Ring chromosome
    Negative band

  • Chandley A C, Edmond P, Christie S, Gowans L, Fletcher J M, Frackiewicz A, Newton M S: Cytogenetics and infertility in man. 1. Karyotype and seminal analysis. Results of a five-year survey of men attending a subfertility clinic. Ann. Hum. Genet. 39:231-254, 1975. [PubMed: 1052767]
    Case R.F. (PK 230/11/73) in this report.
    46,XY,t(7;17)(p22;q21).&The translocation is a new mutation and wife had primary amenorrhea and a small uterus.
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    Negative band

  • Cobben J M, Verheij J B G M, Eisma W H, Robinson P H, Zwierstra R P, Leegte B, Castedo S. : Bilateral split hand/foot malformation and inv(7)(p22q21.3). J. Med. Genet. 32:375-378, 1995. [PMC free article: PMC1050433] [PubMed: 7616545]
    46,XY,inv(7)(p22q21.3)de novo.
    Besides the split hand/foot anomaly, an hemangiomatous malformation was present on the right lower arm and hand.
    Aberration: Inversion pericentric
    MIM#: 183600
    Index Terms: Split hand/foot malformation (bilateral)
    Negative band

  • Cohen O, Cans C, Mermet M-A, Demongeot J, Jalbert P.: Viability threshold for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations. Hum. Genet. 93:188-194, 1994. [PubMed: 8112744]
    46,XY,der(8)t(7;8)(p22;q12).
    Case from European prenatal diagnosis register.
    Aberration: Reciprocal translocation

  • De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]
    t(7;13)(p22;q22).
    Aberration: Reciprocal translocation
    Negative band

  • Goodman B K, Stone K, Coddett J M, Cargile C B, Gurewitsch E D, Blakemore K J, Stetten G.: Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. Prenat. Diag. 19:1150-1156, 1999. [PubMed: 10590434]
    46,XY,inv(7)(p22q31.3).,46,XY,rec(7)dup(7q)inv(7)(p22q31.3)pat
    Anomalies were detected and at birth MCA were present. Follow up at 8 mo showed hydrocephalus and other anomalies.
    Aberration: PI,RE

  • Hatzissevastou-Loukidou H, Bouli-Kalachani A, Malaka-Zafiriou A, Mantalenakis S: Reciprocal balanced translocation of the long arm of chromosome 8 to the short arm of chromosome 7 in a woman with two spontaneous abortions. Hum. Genet. 70:379, 1985. [PubMed: 4018803]
    Patient was 28 years old, and had one 4 year old child.
    46,XX,t(7;8)(p22;q22).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Hunter A G W, Rimoin D L, Koch U M, MacDonald G J, Cox D M, Lachman R S, Adomian G: "Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation." AJMG 21:581-589, 1985. [PubMed: 4025390]
    46,XY,t(7;16)(p22;p13).&"46,XY,-7,+der(7),t(7;16)(7qter -> 7p22::16p13 -> 16pter)pat."
    Aberration: Simple translocation
    Negative band

  • Ishii F, Fujita H, Nagai A, Ogihara T, Kim H S, Okamoto R, Mino M.: Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes. AJMG 73:290-295, 1997. [PubMed: 9415687]
    Father and a brother:46,XY,inv(7)(p22q22).,Patient:46,XY,rec(7)dup(7q)inv(7)(p22q22)pat.
    The newborn had MCA including chondrodysplasia punctata and ASD.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 7q+

  • Jewett T, Marnane D, Stewart W, Hayworth-Hodge R, Finklea L, Klinepeter K, Rao P N, Pettenati M J.: Jumping translocation with partial duplications and triplications of chromosomes 7 and 15. Clin. Genet. 53:415-420, 1998. [PubMed: 9660064]
    46,XX,der(8)t(8;15)(q24.3;q24),der(15)t(7;15)(p22;q24).
    The patient was 2 yrs old with seizures, mild dysmorphic features.
    Aberration: JT
    Chromosomal Aneuploidy: 7p+; 15q+

  • Johnson G, Bachman R, Roed T, Riddewold P: "Partial trisomy 10p and familial translocation t(7;10)(p22;p12)." Hum. Genet. 35:353-356, 1977. [PubMed: 844878]
    46,XY,t(7;10)(p22;p12).,46,XY,t(7;10)(7qter->7p22::10p12->10pter;,10qter->10p12::7p22->7pter).
    Case 180376 in this report.
    46,XX,-7,+der(7)(7qter->7p22::10p12->10pter)pat.,The major abnormalities are: mottled skin, mid-facial hypoplasia, low percentiles for weight, length, and head circumference, and club feet.
    Aberration: Reciprocal translocation
    Index Terms: Foot ... talipes equinovarus (club foot),Midface hypoplasia,Skin ... mottled
    Negative band

  • Kadotani T, Kanata S, Naemura M, Namba Y, Matsuo N, Watanabe Y: A case with a long arm duplication of the No. 7 chromosome. Proc. Jpn. Acad. (Ser. B) 61:131-133, 1985.
    46,XX,dir dup(7)(q22 -> qter).
    Aberration: Duplication
    Negative band

  • Kalousek D K, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 715.
    46,XY,t(7;8)(p22;q24.1)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Kaneko K, Saito F, Sunohara N, Ikeuchi T.: Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis. Clin. Genet. 47:158-160, 1995. [PubMed: 7634540]
    Patient 13 in this study.
    46,XX,der t(7;13)(p22;q21)mat.
    The patient was 21 years old.
    The mother and another sister were both healthy and carriers of the translocation.
    Aberration: Simple translocation
    MIM#: 105400
    Index Terms: Amytrophic lateral sclerosis
    Negative band

  • Koiffmann C P, Diament A, de Souza D H, Wajntal A: Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. J. Med. Genet. 27:462-464, 1990. [PMC free article: PMC1017186] [PubMed: 2395166]
    46,XY,r(7)(p22q36).
    Patient was 39 years old.
    The characteristics found in patients with ring 7 are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital anomalies.
    Aberration: Ring chromosome
    Negative band

  • Korner H, Agricola H, Bayer H: "Translocation t(7p+;13q-) associated with recurrent abortion." Humangenetik 28:83-86, 1975. [PubMed: 1171079]
    46,XX,rcp(7;13)(p22;q14).&"46,XX,rcp(7;13)(7qter -> 7p22::13q14 -> 13qter;13pter -> 13q14::7p22 -> 7pter)."
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Lindenbaum R H, Bobrow M: Reciprocal translocations in man. 3:1 meiotic disjunction resulting in 47- or 45- chromosome offspring. J. Med. Genet. 12:29-43, 1975. [PMC free article: PMC1013228] [PubMed: 123589]
    Case 4 (CD/309) in this report.
    Individual II-2 in the pedigree.
    46,XX,t(7;21)(p22;q22).
    Individual III-1 in the pedigree is a mosaic.
    46,XY/47,XY,+der(21)t(7;21)(p22;q22)mat.
    Individual III-2 in the pedigree.
    46,XX,der(7)der(21)t(7;21)(p22;q22)mat.
    Individual III-3 in the pedigree.
    47,XY,+der(21)t(7;21)(p22;q22)mat.
    Aberration: Simple translocation
    Negative band

  • Maciel A T, Hackel C, Magna L A, Pinto W, Jr, Beiguelman B: "Partial trisomy 10q in a child born to a woman with a reciprocal translocation t(7;10)(p22;q24): case report and review of the literature." Brazil. J. Genet. 9:101-113, 1986.
    46,XX,t(7;10)(p22;q24).&"46,XX,der t(7;10)(p22;q24)mat."&"46,XX,-7,+der(7)t(7;10)(7qter -> 7p22:10q24 -> 10qter)mat."
    Patient was 3 years old with congenital malformations.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 10q+,7p-
    Negative band

  • Marcallo F A, Werneck L C, Pilotto R F, Opitz J M: "Hemihypotrophy in a girl with a translocation t(13q;7p)." Europ. J. Ped. 124:167-171, 1977. [PubMed: 837945]
    46,XX,t(7;13)(p22;q12).&"46,XX,t(7;13)(7qter -> 7p22::13q12 -> 13qter;13pter -> 13q12::7p22 -> 7pter)."&In skin cells, apparently the small chromosome 13 was not found and it is stated that the patient may indeed be a mosaic. Both parents had normal chromosomes. The patient was ten years old.
    Aberration: Reciprocal translocation
    Index Terms: Hemihypertrophy
    Negative band

  • Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]
    46,XY,del(7)(p22)mat.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7p-
    Index Terms: High resolution G-banding
    Negative band

  • Mehraein Y, Ehlhardt S, Wagner A, Gottert E, Tilgen W, Zang K D, Dill-Muller D.: Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. AJMG DOI=, 2004. [PubMed: 15523614]
    46,XY,r(7)(p22q36)[44]/46,XY[8].,45,XY,-7[3]/47,XY,r(7),+r(7)[2]/47,XY,dup r(7)[3].
    The patient was 14 years old with multiple congenital naevi.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 7p-;7q-
    Index Terms: Proliferating melanocytic congenital naevus

  • Orye E, Laureys G, Verhaaren H: Mosaic and non-mosaic trisomy 15q2. Ann. Genet. 28:58-60, 1985. [PubMed: 3874591]
    46,XX,t(7;15)(p22;q15).
    Patient 2: V. C.
    46,XY,-7,+der(7),t(7;15)(7qter -> 7p22::15q15 -> 15qter)mat.
    Aberration: Simple translocation
    Negative band

  • Palmer C, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 762.
    46,XY,t(7;18)(p22;q11)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Peakman D C, Robinson A: Indications for chromosome analysis: Effect of new banding techniques. J. Ped. 88:166-167, 1976. [PubMed: 54413]
    46,XY,-7,+t(7;9)(p22;p13).
    Aberration: Simple translocation
    Negative band

  • Pelliccia F, Rocchi A: DAPI-inducible common fragile sites. Cytogenet. Cell Genet. 42:174-176, 1986. [PubMed: 3731886]
    Aberration: Fragile sites
    Negative band

  • Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager H-D, Tariverdian G, Brown J, Kearney L, Jauch A.: Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum. Genet. DOI=10.1007/s00439-002-0739-x; 111:31-39, 2002. [PubMed: 12136233]
    Case 6, was 3 1/4 years old:
    46,XX,der(7)t(7;7)(p22;q36)de novo
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7p+;7q-
    Index Terms: Multiplex FISH (M-TEL) assay

  • Lewanda A F, Green E D, Weissenbach J, Jerald H, Taylor E, Summar M L, Phillips J A III, Cohen M, Feingold M, Mouradian W, Clarren S K, Jabs E W.: Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. AJHG 55:1195-1201, 1994. [PMC free article: PMC1918444] [PubMed: 7977380]
    The disease locus has been narrowed to an 8-cM region between D7S664 and D7S507.

    Reid C S, McMorrow L E, McDonald-McGinn D M, Grace K J, Ramos F J, Zackai E H, Cohen M M, Jr, Jabs E W: Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. AJMG 47:637-639, 1993. [PubMed: 8266989]
    46,XY,der(2)der(7)t(2;7)(p23;p22)mat.&"46,XX,t(2;7)(p23;p22)-mother."
    Both the patient and the mother had characteristics of the Saethre-Chotzen syndrome.
    Aberration: ST,ID
    MIM#: 101400
    Chromosomal Aneuploidy: 7p-
    Index Terms: Saethre-Chotzen syndrome
    Negative band

  • Rodr+¡guez L, Sanch+¡s A, Villa A, C+ínovas A, Peris S, Est+¡valis M, Pons S, Mart+¡nez-Fr+¡as M-L.: Ring chromosome 7 and sacral agenesis. AJMG 94:52-58, 2000. [PubMed: 10982483]
    46,XX,r(7)(p22q36)[86.7%] in 143 cells.
    The 19-month-old patient had microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis.
    Aberration: Ring chromosome
    Index Terms: Sacral agenesis
    No band

  • Schleiermacher E, Schliebitz U, Steffens C, Ronipe G, Schmidt U: Brother and sister with trisomy 10p: a new syndrome. Humangenetik 23:163-172, 1974. [PubMed: 4844639]
    46,XX,t(7;10)(p22;p11).&"46,XX,t(7;10)(7qter -> 7p22::10p11 -> 10pter;10qter -> 10p11::7p22 -> 7pter)."&"46,XX,der(7)der(10)t(7;10)(p22;p11)mat."&"46,XX and XY,-7,+der(7)t(7;10)(p22;p11)mat."&Both of these children are trisomic for the short arm of chromosome 10.
    Aberration: Reciprocal translocation
    Negative band

  • Schnatterly P, Bono K L, Robinow M, Wyandt H E, Kardon N B, Kelly T E: Distal 15q trisomy: Phenotypic comparison of nine cases in an extended family. AJHG 36:444-451, 1984. [PMC free article: PMC1684424] [PubMed: 6711563]
    46,XX and XY,der(7)der(15)t(7;15)(p22;q23)mat and pat.&"46,XX or XY,-7,+der(7)t(7;15)(7qter -> 7p22::15q23 -> 15qter)mat or pat."
    Aberration: Reciprocal translocation
    Negative band

  • Simopoulou M, Harper J C, Fragouli E, Mantzouratou A, Speyer B E, Serhal P, Ranieri D M, Doshi A, Henderson J, Rodeck C H, Delhanty J D A.: Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat. Diag 23:652-662, 2003. [PubMed: 12913872]
    Case F=46,XX,ins(7)(p22q32q31.1)
    Normal live birth.
    Aberration: Direct insertions within a chromosome
    Index Terms: PGD

  • Stetten G, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 756.
    46,XY,t(7;15)(p22;q24)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Styles S M, Popkin J S, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation Nos. 766 to 768.
    46,XY,t(7;19)(p22;q12)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Subrt I: Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55:303-307, 1980. [PubMed: 7203462]
    46,der(7)t(7;20)(pter;q11)pat;der inv(X)(pq)mat.&46,X,inv(X)(pq).
    Case 8.
    46,XY,t(7;20)(pter;q11).
    Aberration: Simple translocation
    Negative band

  • Sutherland G R, Carter R F, Morris L L: Partial and complete trisomy 9: delineation of a trisomy 9 syndrome. Hum. Genet. 32:133-140, 1976. [PubMed: 1270071]
    Case I in this report.
    46,XX,t(7;9)(p22;q32).&"46,XX,t(7;9)(7qter -> 7p22::9q32 -> 9qter;9pter -> 9q32::7p22 -> 7pter)."&"47,XX,+der(9)t(7;9)(p22;q32)mat."
    Case II in this report.
    47,XX,+9.&A review of clinical finding in partial trisomy 9 cases is given in this report. The features are abnormalities of the cardiovascular and urinogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death.
    Aberration: Reciprocal translocation
    Index Terms: Congenital heart defects (cardiovascular anomalies),Dislocation ... multiple,Hip(s) ... dislocation (coxa vara),Knee ... dislocation of
    Negative band

  • Tolksdorf M, Kunze J, Gross-Selbeck G, Sperling K, Wegner R D, Wieczorek V, Vogel M: Familial trisomy 9p and spinal muscular atrophy: Clinical, cytogenetic and embryological findings. Europ. J. Ped. 126:13-27, 1977. [PubMed: 902660]
    46,XX,t(7;9)(p22;p13).
    Case U. M. (261267) in this report.
    Died on 150271 at age 3 years 2 months.&"46,XX,-7,+der(7),t(7;9)(p22;p13)mat."&"46,XX,-7,+der(7),t(7;9)(7qter -> 7p22::9p13 -> 9pter)mat."
    Aberration: Simple translocation
    Index Terms: Muscular atrophy ... spinal
    Negative band

  • Tsukamoto H, Sakai N, Taniike M, Nakatsukasa M, Yoshiwara W, Sakamoto H, Fujimura H, Inui K, Okada S: Case of ring chromosome 7: the first report of neuropathological findings. AJMG 46:632-635, 1993. [PubMed: 8362903]
    46,XY,r(7)(p22q36)de novo.
    The patient died at the age of 20 months; and had severe MR, growth failure, microcephaly, cleft lip and palate, cafe-au-lait spots, nevus flammeus, and genital abnormalities.
    On autopsy he had fusion of the anterior cerebral hemispheres, accompanied by agenesis of olfactory bulbs and tracts. Heterotopic Purkinje cell clusters in the cerebellar white matter, absence of pigmentation within the brainstem pigmented neurons, and severe hypomyelination in the whole brain were noted.
    Aberration: Ring chromosome
    Index Terms: Purkinje cell,Microcephaly
    Negative band

  • Verma R S, Conte R A, Pitter J H, Luke S: Pericentric inversion of chromosome 7 (inv(7)(p22q11.2)) and ring chromosome 8 (r(8)(p23q24.3)) in a girl with minor anomalies. J. Med. Genet. 29:66-67, 1992. [PMC free article: PMC1015827] [PubMed: 1552550]
    46,XX,inv(7)(p22q11.2)de novo,r(8)(p23q24.3)de novo.
    Patient was a 13 year old girl with MCA/MR.
    Aberration: Inversion pericentric
    Negative band

  • Wajntal A, Gonzalez C H, Koiffmann C P, de Souza D H: "Brief cytogenetic report on maternal translocation t(7;9)(p22;p13): two sibs with duplication 9p and one sib with the balanced translocation." AJMG 20:265-269, 1985. [PubMed: 3976719]
    46,XX,t(7;9)(p22;p13).
    Patient 1, S. V. M.
    46,XX,-7,+der(7)t(7;9)(7qter -> 7p22::9p13 -> 9pter)mat.
    Patient 2, J. M.
    46,XY,-7,+der(7)t(7;9)(p22;p13)mat.
    Patient S. C. M.
    46,XX,der(7)der(9)t(7;9)(p22;p13)mat.
    Aberration: Simple translocation
    Negative band

  • Walter S, Sandig K, Hinkel G K, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O.: Subtelomeric FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. AJMG DOI=10.1002/ajmg.a.30160; 128A:364-373, 2004. [PubMed: 15264281]
    Patient 1=46,XX.ish der(7)inv(7)(p22q36.3)(D7S427-)mat.,Mother=46,XX.ish inv(7)(p22q36.3)(D7S427 mv,yac965c12/D7S550 mv,yac965c12/D7S550 mv,yac855a6/D7S481 st).
    Trisomy 7p (0.3-5.8 Mb) and monosomy 7q (>3.6).
    Aberration: PI,RE
    Chromosomal Aneuploidy: 7p+;7q-

  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    Data from Henry Ford Hospital, Detroit.
    46,XX,t(7;16)(p22;q24).
    MCA, including duodenal atresia and situs inversus, patent ductus arteriosus, abnormal carotid artery origin, absent lung lobulation, and annular pancreas.
    Aberration: Reciprocal translocation
    Index Terms: Duodenal atresia,Annular pancreas,Situs inversus,Patent ductus arteriosus
    Negative band