12q240

12q24

Publication Details

  • Barber N D, Carpenter N J, Munshi G, Jones K, Miller G C, Say B: "Familial mental retardation with an incidental balanced t(12;16) translocation." Southern Med. J. 74:1021-1022, 1981. [PubMed: 7268484]
    46,XX or XY,t(12;16)(12pter -> 12q24::16q12 -> 16qter;16pter -> 16q12::12q24 -> 12qter).&Three members of the family including the proband, a 4 year old girl with developmental delay, recurrent upper respiratory infections, and delayed language skills, had the apparently balanced reciprocal translocations.
    Aberration: Reciprocal translocation
    Index Terms: Language deficit ... delayed
    Negative band

  • Bommer C, Korner H: "Family-related balanced chromosomal translocation t(12;13) in family with several teratoid stillbirths." Zbl. Gynakol. 104:1578-1583, 1982. [PubMed: 6892078]
    Family was ascertained because of several stillbirths. Partial trisomy and monosomy of 13 is discussed as the cause of the malformations.
    46,XX or XY,t(12;13)(q24;q22).
    Aberration: Reciprocal translocation
    Index Terms: Still born (premature)
    Negative band

  • Same entry as in 01p320,03p220,10p110,11q130 (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(12;22)(q24;q11).
    Aberration: Reciprocal translocation
    Negative band

  • Brandt C A, Lyngbye T, Pedersen S, Bolund L, Friedrich U: "Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier." J. Med. Genet. 31:234-237, 1994. [PMC free article: PMC1049749] [PubMed: 8014973]
    46,XY,-12,+der(12)t(12;16)(q24;p12)pat.
    The infant had MCA but during prenatal examination a cyst was noticed and karyotyping at CVS showed normal chromosomes.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 12q-,16p+
    Negative band

  • Chen H, Tyrkus M, Woolley P V: Double Aneuploidy: Partial trisomy 21 and XO/XXX in a family with 12/21 translocation. Ann. Genet. 21:177-180, 1978. [PubMed: 315194]
    46,XX,rcp(12;21)(q24;q21).&"46,XX,rcp(12;21)(12pter -> 12q24::21q21 -> 21qter;21pter -> 21q21::12q24 -> 12qter)."&"48,XXX,+der(21),rcp(12;21)(q24;q21)mat."
    Patient with mild mental retardation with spatial perceptual difficulties, microcephaly, depressed nasal root, receding chin, webbed neck, low hairline, shield chest, cubitus valgus, scoliosis, and dermatoglyphic findings not characteristic of Down syndrome is reported.
    Aberration: Reciprocal translocation
    Index Terms: Chest ... shield,Chin ... receded,Cubitus valgus,Down syndrome (Trisomy 21),Hairline ... posterior, low,Microcephaly,Neck ... webbed,Scoliosis
    Negative band

  • Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    46,XX,t(12;18)(q24;q23).
    Aberration: Simple translocation
    Index Terms: Metabolic disorders
    Negative band

  • de Muelenaere A, Fryns J P, van den Berghe H: Partial distal 12q trisomy. Ann. Genet. 23:251-253, 1980. [PubMed: 6971608]
    46,XX,t(12;17)(q24;q25).
    Patients VHD and VHC were 22 and 20 years old, respectively.
    46,XX,der(17)t(12;17)(17pter -> 17q25::12q24 -> 12qter).
    Aberration: Reciprocal translocation
    Negative band

  • Faed M J W, Robertson J: Integrity of the telomere. Lancet 2:973-974, 1972. [PubMed: 4116850]
    46,XX,t(12;13)(q24;q1).&"46,XX,t(12;13)(12pter -> 12qter?::13q1 -> 13qter;13pter -> 13q1::?)."&"46,XX,-13,+der(13)t(12;13)(q24;q1)mat."
    Aberration: Tandem translocation
    Negative band

  • Fried K, Bar-Yochai A, Rosenblatt M, Mundel G: Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation. J. Med. Genet. 15:76-78, 1978. [PMC free article: PMC1012829] [PubMed: 633321]
    46,XX and XY,der(12)der(18)t(12;18)(q24;q21)pat.
    Case 101076 in this report.
    47,XX,+der(18)t(12;18)(q24;q21)mat.
    Patient died at the age of 5 months. The authors suggest that triplication of the distal part of the long arm of chromosome 18 is not necessary to produce Edwards syndrome.
    Aberration: Reciprocal translocation
    Index Terms: Edwards syndrome (trisomy 18)
    Negative band

  • Hamerton J L, Canning N, Ray M, Smith S: A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin. Genet. 8:223-243, 1975. [PubMed: 1183067]
    46,XY,t(12;20)(q24;q11).
    Case 5661 (120671) in this report.
    46,XX,der(12)der(20)t(12;20)(q24;q11)pat.
    Aberration: Simple translocation
    Negative band

  • Hemming L, Brown R: Partial trisomy 12q associated with a familial translocation. Clin. Genet. 16:25-28, 1979. [PubMed: 477011]
    46,XY,t(12;18)(q24;q23).,46,XX,-18,+der(18)t(12;18)(18pter->18qter::12q24->12qter)pat.,The proband had multiple congenital abnormalities including: brachycephaly with occipital flattening; small ear lobes; short thick neck with loose, posterior skin folds; small nose with a flat bridge; short proximal arms; dislocation of both hips; a simian palmar crease on the right hand; a single crease on both fifth fingers; an anteriorly displaced anus. The proband died after six days. Autopsy showed the cause of death to be bacterial lobar pneumonia. There were also multiple congenital abnormalities.
    Aberration: Simple translocation
    Index Terms: Anus ... anterior displaced,Brachycephaly,Dislocation ... hip,Ears ... lobes (small, prominent),Fingers ... fifth single crease,Hip(s) ... dislocation (coxa vara),Neck ... loose posterior skin folds,Neck ... short,Occiput ... flat,Skin ... folded
    Negative band

  • Hobolth N, Jacobsen P, Mikkelsen M: "Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother." J. Med. Genet. 11:299-303, 1974. [PMC free article: PMC1013149] [PubMed: 4139263]
    46,XX,t(12;21)(q24;p11).&"46,XX,t(12;21)(12pter -> 12q24::21p11 -> 21pter;21qter -> 21p11::12q24 -> 12qter)."&"46,XY,-21,+der(21)t(12;21)(q24;p11)mat."&The two year old proband (001271) had multiple congenital anomalies and Vineland social maturity scale of 43.
    Aberration: Reciprocal translocation
    Negative band

  • Jenkins E C, Duncan C J, Wright C E, Giordano F M, Wilbur L, Wisniewski K, Sklower S L, French J H, Jones C, Brown W T: Atypical Down syndrome and partial trisomy 21. Clin. Genet. 24:97-102, 1983. [PubMed: 6225574]
    Jeziorowska A, Houck G E, Jr, Yao X L, Jr, Sklower-Brooks S L, Wisniewski K E, Jenkins E C, Wisniewski H M: Reassessment of a chromosome 12q+ marker by fluorescent in situ hybridization (FISH). Clin. Genet. 42:124-128, 1992. [PubMed: 1395083]
    46,XX,12q+.
    In situ hybridization with pBS-12 and pBS21 was performed to demonstrate that the 12q+ chromosome did not contain 21q material.
    Aberration: Duplication
    Chromosomal Aneuploidy: 12q+
    Negative band

  • Johnson G, Bachman R: "A 46,XY,del(18)(pter to p1100:) cebocephalic child from a 46,XX,t(12;18)(18pter to 18p1100::12qter to 12pter) normal parent." Hum. Genet. 34:103-106, 1976. [PubMed: 964998]
    46,XX,t(12;18)(qter;p11).&"46,XX,t(12;18)(12pter -> 12qter::18p11 -> 18pter;18qter -> 18p11:)."
    Subject 210373 in this report.
    46,XY,-18,+der(18),t(12;18)(qter;p11)mat.&A normal female without any features of 18p- syndrome.
    Aberration: Simple translocation
    Index Terms: Cebocephaly-holoprosencephaly
    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. 982.
    46,XX,t(12;20)(q24;q11)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Machin G A: Chromosome abnormality and perinatal death. Lancet 1:549-551, 1974. [PubMed: 4131984]
    46,XX,t(12;17)(q24;q21).
    Aberration: Simple translocation
    Index Terms: Perinatal death
    Negative band

  • Magenis E, Olson 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 No. 976.
    46,XY,t(12;17)(q24;q23)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Makino T, Tabuchi T, Nakada K, Iwasaki K I, Tamura S, Iizuka R: Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int. J. Fertil. 35:266-270, 1990. [PubMed: 1980661]
    46,XY,t(12;15)(q24;q22).
    Aberration: Reciprocal translocation
    Negative band

  • Mann J, Wcislo 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. 969.
    46,XX,t(12;13)(q24;q14)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Naccache N F, Vianna-Morgante A M, Richieri-Costa A: Duplication of distal 17q: report of an observation. AJMG 17:633-639, 1984. [PubMed: 6711615]
    46,XY,t(12;17)(q24;q23).
    Patient A.M.
    46,XY,-12,+der(12)t(12;17)(12pter -> 12q24::17q23 -> 17qter)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Shapiro L 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. 974.
    46,XX,-12,+der(12),t(12;15)(q24;q23)mat.
    Observation No. 975.
    46,XY,t(12;15)(q24;q23)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Sutherland G R, Carter R F, Bauld R, Smith I I, Bain A D: Chromosome studies at the paediatric necropsy. Ann. Hum. Genet. 43:173-181, 1978. [PubMed: 569457]
    t(12;16)(q24;p11).
    Aberration: Simple translocation
    Negative band

  • Same entry as in 02q330, 04p150 (Warburton, 1991).

  • 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(12;20)(q24;q11).
    Aberration: Reciprocal translocation
    Negative band