04q210

4q21

Publication Details

  • Bonnet C, Andrieux J, Beri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Bois M C, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.: Microdeletion at 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. J. Med. Genet. 47: 377-384, 2010. [PubMed: 20522426]
    Nine patients, ranging from 9 mo to 23 years, with de novo deletions, are reported.
    Size ranges from 3.2 Mb to 15.1 Mb, and extends from 82.228 875 to 83 601 083 bp.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4q-

  • 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(4;9)(q21;q34); t(4;10)(q21;q11); t(4;15)(q21;q26); t(4;18)(q21;q22); t(4;21)(q21;q21).
    Aberration: Reciprocal translocation
    Negative band

  • Bugge M, Bruun-Petersen G, Brondum-Nielsen K, Friedrich U, Hansen J, Jensen G, Jensen P K A, Kristoffersson U, Lundsteen C, Niebuhr E, Rasmussen K R, Rasmussen K, Tommerup N.: Disease associated balanced chromosome reaarngements: a resource for large scale genotype-phenotype delineation in man. J. Med. Genet. 37:858-865, 2000. [PMC free article: PMC1734480] [PubMed: 11073540]
    Wirth J, Nothwang H-G, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brondum-Nielsen K, Tommerup N, Bugge M, Ropers H-H, Haaf T.: Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J. Med. Genet. 36:271-278, 1999. [PMC free article: PMC1734345] [PubMed: 10227392]
    Case 3:
    46,X,t(X;4)(p21;p14),inv(2)(p15q11.1),t(4;13)(q21;q22).
    The patient, born in 1957, has simian creases, frontal hair line and abnormally short hands.
    Aberration: Reciprocal translocation

  • Campbell J M, Williams J, Batcup G: Interstitial deletion of chromosome 4q diagnosed prenatally. J. Med. Genet. 23:366-368, 1986. [PMC free article: PMC1049709] [PubMed: 3746841]
    Prenatal diagnosis was performed because of high serum alphafetoprotein.
    46,XY,del(4)(pter -> q21::q27 -> qter).
    Aberration: Interstitial deletion
    Index Terms: Alpha-feto protein
    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. 483.
    46,XY,t(4;14)(q21;q32)pat.
    Aberration: Reciprocal translocation
    Negative band

  • de la Chapelle A, Koivisto M, Schroder J: "Segregating reciprocal (4;21)(q21;q21) translocation with proposita trisomic for parts of 4q and 21." J. Med. Genet. 10:384-389, 1973. [PMC free article: PMC1013062] [PubMed: 4129974]
    46,XY,t(4;21)(q21;q21).&"46,XY,t(4;21)(4pter -> 4q21::21q21 -> 21qter;21pter -> 21q21::4q21 -> 4qter)."&"46,XX and XY,der(4)der(21)t(4;21)(q21;q21)pat."&"47,XX,+der(21)t(4;q21)(q21;q21)mat."
    Aberration: Reciprocal translocation
    Negative band

  • Froster-Iskenius U, Hayden M R, Wang H S, Kalousek D K, Horsman D, Pfeiffer R A, Schottky A, Schwinger E: "A family with Huntington disease and reciprocal translocation 4;5." AJHG 38:759-767, 1986. [PMC free article: PMC1684826] [PubMed: 2940859]
    A five generation family is reported with III-1, IV-1, IV-2, IV-3, and V-6 carrier members.
    46,XX and XY,t(4;5)(4pter -> 4q21::5p153 -> 5pter;5qter -> 5p153::4q21 -> 4qter).
    Aberration: Reciprocal translocation
    MIM#: 143100
    Negative band

  • Grabowski M, Fauth C, Wirtz A, Speicher M R.: Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t(4;14)(q21;p12). AJMG 92:264-268, 2000. [PubMed: 10842293]
    46,XX,der t(4;14)(q21;p12)mat.
    The 43 yo carrier mother had four miscarriages and a healthy boy.
    Aberration: Reciprocal translocation

  • Grimbacher B, Dutra A S, Holland S M, Fischer R E, Pao M, Gallin J I, Puck J M.: Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet. in Med. 1:214-219, 1999. [PubMed: 11256675]
    mos46,XY.ish del(4)(q21)[25%]/47,XY,+mar.ish 47,XY,del(4)(q21),,+4(q21)[75%].
    The proband was a 17-year-old, with profound impairment in social interaction, minimal speech, and autism. It was shown that the maternally inherited chromosome 4 was the one that had undergone deletion and the marker formation in the proband. The marker chromosome contains about 15-20 cM of DNA from between markers D4S1569 and D4S3010.
    Chromosomal Aneuploidy: 4q+
    Index Terms: Hyper-IgE syndrome,Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,

  • Herva R, von Wendt L: De novo trisomy 4pter to q21. Hum. Genet. 41:225-230, 1978. [PubMed: 640656]
    47,XX,+del(4)(pter -> q21:).
    Patient, 000277 in this report, died at 4 months due to bronchopneumonia, had multiple congenital anomalies including anopthalmia.
    Aberration: Terminal deletion
    Index Terms: Anophthalmia,Eye ... anophthalmia
    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. 477.
    46,XY,t(4;12)(q21;q15)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Markovic S, Radojkovic Z, Sulovic V, Adzic S, Mijin K: Autosomal aberrations in newborn infants. Med. Invest. J. Belgrade U. School of Med. 14(Suppl. 1-2):19-21, 1981.
    Markovic S, Sulovic V, Diklic V, Kosanovic M: Translocation 4/15 in patients with spontaneous abortion. Med. Invest. J. Belgrade U. School of Med. 10(Suppl. 1-2):9-12, 1977.
    46,XX and XY,t(4;15)(q21;q26).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H.: Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum. Reprod. 12:2635-2640, 1997. [PubMed: 9455827]
    van der Ven K, Peschka B, Montag M, Lange R, Schwanitz G, van der Ven H H.: Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum. Reprod. 13:48-54, 1998. [PubMed: 9512227]
    Patient C95/834:
    46,XY,t(4;5)(q21;q11.2)
    Patient was 30 years old with severe oligoasthenoteratozoospermia (OAT).
    Aberration: Reciprocal translocation
    Index Terms: ICSI

  • Mujica P, Morali A, Vidailhet M, Pierson M, Gilgenkrantz S: "A case of Alagille''s syndrome with translocation (4;14)(q21;q21)." Ann. Genet. 32:117-119, 1989. [PubMed: 2757361]
    Steve A., 150885.
    46,XY,t(4;14)(4pter -> 4q21::14q21 -> 14qter;14pter -> 14q21::4q21 -> 4qter)pat.
    Multiple congenital anomalies were present including cranio-facial dysmorphism, bilateral clinodactyly, exomphalos, hypokinetic cardiomyopathy, cholestatic jaundice, and the child died after 3 months and a week.
    Aberration: Reciprocal translocation
    MIM#: 118450
    Negative band

  • Navarro E G, Martinez Romero M C, Exposito I L, Mendez Velasco C, Gabarron Llamas J, Hernandez Ramon F J, Domingo Jimenez R.: De novo interstitial tandem duplication of chromosome 4 (q21-q28). AJMG 62:297-299, 1996. [PubMed: 8882791]
    46,XX,dir dup(4)(q21q28)de novo.
    Aberration: Duplication
    Chromosomal Aneuploidy: 4q+
    Negative band

  • Patil S 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. 438.
    46,XY,t(4;8)(q21;q22)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Pettenati M J, Jackle B, Bobby P, Stewart W, Von Kap-Herr C, Mowrey P, Rao P N, May K M.: Unexpected retention and concomitant loss of subtelomeric regions in balanced chromosome anomalies by FISH. AJMG 111:48-53; DOI=10.1002/ajmg.10535, 2002. [PubMed: 12124733]
    Case 3:
    46,XY,t(4;15)(q21;q26.3).,46,XX,der(15)t(4;15)(q21;q26.3)pat.
    The case was evaluated because of abnormal ultrasound.
    The derived chromosome 15 showed the subtelomeric signals of 4q and 15q.
    Aberration: Reciprocal translocation

  • Rosenberg C, Janson M, Nordeskjold M, Borresen A L, Vianna-Morgante A M: "Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH." Cytogenet. Cell Genet. 65:268-271, 1994. [PubMed: 8258302]
    Patient MS, also reported by Janson and Nordeskjold.
    46,X ,t(4;13)\q21(2 breaks);q14(3 breaks)\.
    Aberration: Simple translocation
    MIM#: 180200
    Index Terms: RB1,Intragenic reorganization
    Negative band

  • Rose N C, Schneider A, McDonald-McGinn D M, Caserta C, Emanuel B S, Zackai E H: Interstitial deletion of 4(q21q25) in a liveborn male. AJMG 40:77-79, 1991. [PubMed: 1887853]
    46,XY,del(4)(q21q25)de novo.
    Anomalies included skull symmetry, cardiac defects, renal cysts, "butterfly" vertebrae, facial gestalt, and developmental delay.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4q-
    Index Terms: Vertebra ... butterfly,Renal ... cysts,Skull asymmetry
    Negative band

  • Sciorra L J, Lee M L, Cuccurullo G: Translocation mosaicism in a woman having multiple miscarriages. AJMG 22:615-617, 1985. [PubMed: 4061494]
    mos46,XX/46,XX,t(4;5)(4pter -> 4q21::5q34 -> 5qter;5pter -> 5q34::4q21 -> 4qter).&Also see comment by Fryns, J P and A Kleczkowska: Reciprocal translocations in Man. AJMG 25:175-176, 1986.
    Aberration: Reciprocal translocation
    Negative band

  • Sergovich F 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 Nos. 473 and 474.
    46,XX,-11,+der(11),t(4;11)(q21;q22)pat.
    Observation No. 437.
    46,XX,t(4;8)(q21;q13).
    Aberration: Reciprocal translocation
    Negative band

  • Same entry as in 21q22.1 (Lee et al, 2004).

  • Smith J 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. 444.
    46,XY,t(4;9)(q21;q21)mat.
    Aberration: Reciprocal translocation
    Negative band

  • van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, Krebs D, van der Ven H.: Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol. Hum. Reprod. 3:699-704, 1997. [PubMed: 9294854]
    46,XY,t(4;5)(q21;p11.2)
    The patient was evaluated because of low sperm count.
    Aberration: Reciprocal translocation

  • Vejerslev L O, Fisher R A, Surti U, Wake N: Hydatidiform mole: parental chromosome aberrations in partial and complete moles. J. Med. Genet. 24:613-615, 1987. [PMC free article: PMC1050289] [PubMed: 3681907]
    46,XY,t(4;20)(q21;q13.2).
    Aberration: Simple translocation
    Negative band

  • 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,t(4;7)(q21;q34).
    Aberration: Reciprocal translocation
    Negative band