07q220

7q22

Publication Details

  • Same entry as in 0Xq260, 0Xq270 (Waters et al, 2001).

  • Abuelo D N, Padre-Mendoza T: Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 to 7q32). J. Med. Genet. 19:473-476, 1982. [PMC free article: PMC1048969] [PubMed: 7154049]
    Aberration: Interstitial deletion
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome)
    Negative band

  • Best L G, Wasdahl W A, Larson L M, Sturlaugson J: Chromosome abnormality in Kallmann syndrome. AJMG 35:306-309, 1990. [PubMed: 2309777]
    46,XY,inv(9)(p12q13),t(7;12)(q22;q24).
    The 44-year-old patient has deficiency of olfaction, hypogonadotropic hypogonadism, and skeletal anomalies.
    Aberration: Reciprocal translocation
    Negative band

  • Boghosian-Sell L, Comings D E, Overhauser J.: Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3. AJHG 59:999-1005, 1996. [PMC free article: PMC1914824] [PubMed: 8900226]
    46,XY,der t(7;18)(q22;q22.3)pat.
    The proband was 36 years old with Tourette syndrome. Other carrier members of the family exhibited various stigmata of the syndrome.
    The balanced translocation was present in 9 individuals spanning three generations. The breakpoint on chromosome 18 is placed between D18S61 and D18S488 and on chromosome 7 between D7S515 and D7S552.
    Aberration: Reciprocal translocation
    MIM#: 137580
    Index Terms: Tourette syndrome
    Negative band

  • Same entry as in 02q330,06p230,07p150,07q110 (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)(q22;p21); t(7;12)(q22;p12); t(7;13)(q22;q32); t(7;21)(q22;q2).
    Aberration: Reciprocal translocation
    Negative band

  • Bryndorf T, Kirchhoff M, Rose H, Maahr J, Gerdes T, Karhu R, Kallioniemi A, Christensen B, Lundsteen C, Philip J.: Comparative genomic hybridization in clinical cytogenetics. AJHG 57:1211-1220, 1995. [PMC free article: PMC1801381] [PubMed: 7485173]
    Sample II:
    46,XX,-15,+der(15)t(7;15)(q22;p11)de novo.
    The pregnancy was terminated.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7q+
    Index Terms: CGH
    Negative band

  • Carpentier S, Rethore M O, Lejeune J: "Partial trisomy 7q due to familial translocation t(7;12)(q22;q24)." Ann. Genet. 15:283-286, 1972. [PubMed: 4539489]
    46,XX,t(7;12)(q22;q24).,46,XX,t(7;12)(7pter->7q22::12q24->12qter;,12pter->12q24::7q22->7qter).,46,XX,der(7)der(12)t(7;12)(q22;q24)mat.
    Proposita in this report.
    46,XY,der(12)t(7;12)(q22;q24)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Chason R J et al to be completed: A case of partial trisomy 7. Personal communication, 2009.
    Father=46,XY,t(3;7)(p26;q22). Initially=(p21;q11.21),Patient=46,XY,der (3)t(3;7)(p26;q22)pat.
    Patient, a 4 year old with MCA including supravalvular stenosis, hydrocephalus, and hypothyroidism.
    Family history with t(3;7) translocation.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7q+

  • Colls P, Martinez-Pasarell O, P+¬rez M M, Egozcue J, Templado C.: Cytogenetic analysis of spermatozoa in the father of a child with a de-novo reciprocal translocation t(7;9)(q22;p23). Mol. Hum. Reprod. 4:1145-1149, 1998. [PubMed: 9872365]
    46,XY,t(7;9)(q22;p23)de novo
    The child was phenotypically normal; was ascertained via prenatal diagnosis done because of advanced maternal age.
    Aberration: Reciprocal translocation

  • Emanuel B S, Zackai E H, Moreau L, Coates P, Orrechio E: Interstitial deletion 13q33 resulting from maternal insertional translocation. Clin. Genet. 16:340-346, 1979. [PubMed: 293234]
    46,XX,ins(7;13)(q22;q32q34).,46,XX,del(13)(q32->q34)mat.,A 32 month old female with a unique interstitial deletion of 13q is presented in this report. The demonstration of two Esterase D alleles in the proband with a demonstrable deletion of band 13q33 excludes this as the site of the ESD locus.
    Aberration: Direct insertion between two chromosomes
    Negative band

  • Genuardi M, Gurrieri F, Neri G: Genes for split hand/split foot and laterality defects on 7q22.1 and Xq240q27.1. AJMG 50:101, 1994. [PubMed: 8160746]
    Koiffmann C P, Wajntal A, de Souza D H, Gonzalez C H, Coates M V: "Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24)." AJMG 47:568-569, 1993. [PubMed: 8192752]
    46,XY,ins(7;8)(q22;q12q24).
    Aberration: Direct insertion between two chromosomes
    MIM#: 183600
    Index Terms: Split hand/split foot
    Negative band

  • Haslam J S, Norman A M: De novo inverted duplication of chromosome 7q. J. Med. Genet. 29:837-838, 1992. [PMC free article: PMC1016185] [PubMed: 1453440]
    46,XX,inv dup(7)(pter->q36.1::q36.1->q22::q36.1->qter)de novo.
    Pregnancy had been terminated because of hydrocephalus.
    Aberration: II,DU
    Chromosomal Aneuploidy: 7q+
    Negative band

  • Howard-Peebles P N, 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. 1758.
    46,XX,inv(7)(q22q31.2)pat.
    Aberration: Inversion paracentric
    Negative band

  • Kajii T, Ohama K: Androgenetic origin of hydatidiform mole. Nature 268:633-634, 1977. [PubMed: 561314]
    46,XX,t(7;8)(q22;p21).,46,XX,t(7;8)(7pter->7q22::8p21->8pter;8qter->8p21::7q22->7qter).
    Aberration: Reciprocal translocation
    Index Terms: Hydatidiform mole
    Negative band

  • Karp L, Resta R, 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. 1759.
    46,XX,inv(7)(q22q36)pat.
    Aberration: Inversion paracentric
    Negative band

  • Knuutila S, Panelius M, Pihlaja T: "A mentally and physically retarded girl with a familial balanced reciprocal translocation t(7;13)." Hereditas 85:249-250, 1977. [PubMed: 885733]
    Case R.H. (aged 16 years) in this report.
    46,XX or XY,t(7;13)(q22;q32).,46,XX or XY,t(7;13)(7pter->7q22::13q32->13qter;,13pter->13q32::7q22->7qter).,Four other relatives in two generations had the same translocation chromosomes and were clinically normal.
    Aberration: Reciprocal translocation
    Negative band

  • Koch G A, Eddy R L, Haley L L, Byers M G, McAvoy M, Shows T B: Assignment of the human phosphoserine phosphatase gene (PSP) to the pter to q22 region of chromosome 7. Cytogenet. Cell Genet. 35:67-69, 1983. [PubMed: 6297854]
    Negative band

  • Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]
    Case 8:
    46,XY,der dup(7)(q22q31)mat
    Aberration: Duplication
    Chromosomal Aneuploidy: 7q+

  • Kuwano A, Sugio Y, Murano I, Kajii T: Common fragile sites induced by folate deprivation, BrDU and aphidicolin: their frequency and distribution in Japanese individuals. Jpn. J. Hum. Genet. 33:355-364, 1988. [PubMed: 3144619]
    This site is unique to folate deficiency.
    Aberration: Fragile sites
    Negative band

  • Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]
    Case 6.
    47,XXY,inv(7)(q22q31)pat.
    Aberration: Inversion paracentric
    Negative band

  • M+¬garban+¬ A, Gosset P, Souraty N, Lapierre J M, Turleau C, Vekemans M, Loiselet J, Prieur M.: Chromosome 7q22-q31 duplication: report of a new case and review. AJMG 95:164-168, 2000. [PubMed: 11078569]
    Patient HB was 6 years old.
    46,XX,dup(7)(q22q31.3)de novo
    The patient had MCA and MR.
    Aberration: Duplication
    Chromosomal Aneuploidy: 7q+
    No band

  • Rodriguez L, Lopez F, Paisan L, del Mar Portugues de la Red M, Ruiz A M, Blanco M, Cortizas J A, Martinez-Frias M L.: Pure partial trisomy 7q: Two new patients and review. AJMG DOI=10.1002/ajmg.10719; 113:218-224, 2002. [PubMed: 12407716]
    47,XX,+der(15)t(7;15)(q22;q11.2).ish der(15)t(7;15)(wcp7+)(SNRPN-)mat.
    The infant showed dehiscence of sutures, complete cleft palate, retrognathia, and pulmonary hypoventilation. The patient died at about 1 year''s age due to cardiorespiratory failure.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+

  • Schnur R E, Herzberg A J, Spinner N, Kant J A, Magnusson M, McDonald-McGinn D, Rehberg K, Honig P J, Zackai E H. : Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q. J. Am. Acad. Dermatol. 28:364-370, 1993. [PubMed: 8436660]
    46,XY,der inv(7)(q22q31.3)mat.
    The 2 1/2 year old boy had hirsutisum and ringed creases of the extremities associated with an underlying smooth muscle hamartoma. He also had facial dysmorphia, submucous cleft palate, lateral clefting of the mouth, genital and dental anomalies. He also developed seizures and has moderate developmental delay.
    Aberration: Inversion paracentric
    MIM#: 156610
    Index Terms: Michelin tire syndrome,smooth muscle hamartoma

  • Serville F D, Broustet A, Sandler B, Bourdeau M J, Leloup M: Partial trisomy 7q. Ann. Genet. 18:67-70, 1975. [PubMed: 1080040]
    Subject C.B. in this report.
    46,XY,t(7;13)(7pter->7q22::13q32->13qter;,13pter->13q32::7q22->7qter).,46,XY,der(13)t(7;13)(q22;q32)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Sheridan E, Williams J, Caine A, Morgan R, Mason G, Mueller R F.: Counselling implications of chromosomal abnormalities other than trisomy 21 detected through a maternal serum screening programme. Brit. J. Obstet. Gynecol. 104:42-45, 1997. [PubMed: 8988695]
    inv(7)(q22q34)de novo
    Aberration: Inversion paracentric
    No band

  • Shimba H, Ohtaki K, Tanabe K, Sofuni T: Paracentric inversion of a human chromosome 7. Hum. Genet. 31:1-7, 1976. [PubMed: 1248816]
    Subject MF (No. 460964) in this report.
    46,XY,inv(7)(pter->q22::q31->q22::q31->qter).,With regard to the erroneous claim made by the authors of this report that theirs was the first report of a paracentric inversion in man, see Yu, C W, D S Borgaonkar and D R Bolling: Paracentric inversion in man. Humangenetik 34:117, 1976.
    Aberration: Inversion paracentric
    Negative band

  • Solomon E, Hiorns L, Dalgleish R, Tolstoshev P, Crystal R, Sykes B: Regional localization of the human alpha 2(I) collagen gene on chromosome 7 by molecular hybridization. Cytogenet. Cell Genet. 35:64-66, 1983. [PubMed: 6825474]
    The gene has been localized to pter -> q22.
    Negative band

  • Teshima I, 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. 748.
    46,XY,t(7;13)(q22;q34)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Tuerlings J H A M, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M N, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl K B J, Kremer J A M, Smeets D F C M.: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Europ. J. Hum. Genet. 6:194-200, 1998. [PubMed: 9781022]
    46,XY,der inv(7)(q22q31)
    Aberration: Inversion paracentric
    Index Terms: ICSI

  • 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]
    46,XY,inv(7)(q22q36).
    46,XX,t(7;19)(q22;q13).
    46,XY,t(7;11)(q22;q23).
    Aberration: IP,RT
    Negative band

  • Watt J L, Ward K, Couzin D A, Stephen G S, Hill A: A paracentric inversion of 7q illustrating a possible interchromosomal effect. J. Med. Genet. 23:341-344, 1986. [PMC free article: PMC1049702] [PubMed: 3746835]
    The proband had an X chromosome abnormality (see under 0Xp220); and the mother showed the paracentric inversion of 7.
    46,XX,inv(7)(q22q34).
    Aberration: Inversion paracentric
    Negative band

  • Weimer J, Kiechle M, Wiedemann U, Tonnies H, Neitzel H, Ruhenstroth E, Ovens-Raeder A, Arnold N.: Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with slit foot. J. Med. Genet. 37:442-445, 2000. [PMC free article: PMC1734612] [PubMed: 10851255]
    46,XX or XY,rev ish t(2;3;7)(2pter->2q32::7q31.3->7qter;3pter->3p21.3::2q32->2q34::7q22->7q31.3::3p21.3->3qter;7pter->7q22::2q34->2qter).
    The proband was 5 months old, his mother and a sister have the same translocation. Mother and sister have have split feet, whereas the proband has widely spaced first and second toes and several other minor malformations.
    Aberration: Complex translocation
    MIM#: 183600
    Index Terms: Split hand/foot malformation (SHFM)
    No band

  • Wiley J E, 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. 761.
    46,XX,t(7;17)(q22;q25).
    Aberration: Reciprocal translocation
    Negative band

  • Wurster-Hill D H, Rawnsley E, 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. 744.
    46,XX,t(7;13)(q22;q12)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Zaki M, Shehab M, El-Aleem A A, Abdel-Salam G, Koeller H B, Ilkin Y, Ross M E, Dobyns W B, Gleeson J G.: Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. AJMG Part A: 143A: 939-944, 2007. [PubMed: 17431900]
    46,t(7;12)(q22;p13)mat,t(7;12)(q22;p13)pat.
    Lissencephaly cerebellar hypoplasia type B caused by mutations in RELN.
    Aberration: Reciprocal translocation
    Index Terms: RELN,Homozygous Balanced reciprocal translocation