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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Same entry as in 05p150,14q130 (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(14;20)(q24;q12).Aberration: Reciprocal translocationNegative band
- Crandall B, 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. 1018.46,XY,t(14;20)(q24;q13)mat.Aberration: Reciprocal translocationNegative band
- 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(14;17)(q24;q23).Aberration: Reciprocal translocationNegative band
- Deminatti M M, Ribet M, Gosselin B, Bauters F, Mencier E, Savary J B, Lai J L, Vasseur F, Morel P, Bisiau-Leconte S.: Familial thymoma and translocation t(14;20)(q24;p13). Ann. Genet. 37:72-74, 1994. [PubMed: 7985981]46,XX and XY,der(14)der(20)t(14;20)(q24;p13).A three generation family with thymoma and this translocation is presented.Aberration: Reciprocal translocationMIM#: 274230Index Terms: Thymoma, familialNegative band
- Same entry as in 04p140,0Xq280 (Gadow E C et al, 1991).
- Genest P, Genest F B, Gagnon-Blais D: An unusual chromosome rearrangement. An autosomal telomeric translocation on a multicentuary satellited Y chromosome (Yqs). Ann. Genet. 26:86-90, 1983. [PubMed: 6604491]Aberration: Simple translocationNegative band
- Lo Curto F, Maraschio P, Milanesi P, Severi F, Ugazio A C, Zuffardi O: The syndrome of partial trisomy 14q. Europ. J. Ped. 123:237-241, 1976. [PubMed: 991871]Parents karyotypes were normal. The four-month-old patient was presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral microphthalmia, high arched palate and anomalies of hands and feet.Subject A.F. (180675) in this report.47,XY,+der(14)(pter -> q24:).Index Terms: Eye ... microphthalmia,Face ... anomalies,Foot ... anomalies,Hand ... anomalies,Microphthalmia,Mouth ... anomalies,Palate ... high archedNegative band
- Lopez-Pajares I, Delicado A, Cobos P V, Lledo G, Peralta A: Partial trisomy 14q. Hum. Genet. 46:243-247, 1979. [PubMed: 422208]Subject S.R. in this report.47,XX,+del 14(q24).&47,XX,+del 14(pter -> q24:).&Both parents had normal karyotypes. The infant had cranial dysmorphy with hypertelorism, slightly mongoloid eye slits, a high-arched palate, a broad base of the nose, one umbilical artery and low-set ears. The infant was moderately hypotonic. Cardiac examination revealed a systolic murmur. X-ray examination revealed a trigonocephalic skull and urography showed a descending left kidney with an incurvate ureter.Aberration: Terminal deletionIndex Terms: Ears ... low-set,Eye ... mongoloid eye slits,Hypertelorism,Hypotonia,Palate ... high arched,Trigonocephaly,Umbilical artery ... singleNegative band
- Same entry as in 04q250,10p130 (Nielsen et al, 1976).
- Nikolis J, Ivanovic K, Kosanovic M: Tandem duplication of chromosome 14 (q24 to q32) in male newborn with congenital malformations. Clin. Genet. 23:321-324, 1983. [PubMed: 6851224]46,XY,dup(14)(q24 -> q32).Aberration: DuplicationNegative 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 Nos. 1013 and 1014.46,XY,t(14;18)(q24;q22)pat.Aberration: Reciprocal translocationNegative band
- Schwanitz G, Zerres K, Zang K D, Schwinger E: Partielle trisomie 15q und partielle monosomie 14q. Therapiewoche 34:1348-1354, 1984.46,XX,t(14;15)(q24;q15).,46,XX and XY,der(14),t(14;15)(14pter->14q24::15q15->15qter)mat.Aberration: Simple translocationNegative band
- Sklower S L, Jenkins E C, Nolin S L, Duncan C J, Warburton D, Yeboa K A, Merkrebs A, Schwartz R, Wisniewski K, Stimson C, Brown W T: Distal duplication 14q: report of three cases and further delineation of the syndrome. Hum. Genet. 68:159-164, 1984. [PubMed: 6500567]46,XX,t(14;18)(q24;p11).,46,XX,der(18)t(14;18)(q24;p11)mat.Aberration: Simple translocationNegative 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]Data from Vivigen, Santa Fe.46,XY,t(14;22)(q24;q11.2).Fetal autopsy showed two-chambered heart and other abnormalities.Aberration: Reciprocal translocationIndex Terms: Two-chambered heartNegative band
- Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.Case report 6:46,XY,der t(14;19)(q24;p13.3)mat.The proband, 7 years old, was diagnosed with developmental delay and attention delay. He was noted to have dolichocephaly, familial macrocephaly, large ears, slight pectus excavatum, and extremely small fifth toes.Aberration: Reciprocal translocationNegative band
- Wertelecki W, Dumont 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. 1015.46,XY,t(14;18)(q24;q23)pat.Aberration: Reciprocal translocationNegative band
- 14q240 - Chromosomal Variation in Man14q240 - Chromosomal Variation in Man
- AP-1 complex subunit gamma-like 2 isoform 2 [Homo sapiens]AP-1 complex subunit gamma-like 2 isoform 2 [Homo sapiens]gi|541862241|ref|NP_001269403.1|Protein
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