- Bassett A S, McGillivray B C, Jones B D, Pantzar J T: Partial trisomy chromosome 5 cosegregating with schizophrenia. Lancet i:799-801, 1988. [PMC free article: PMC3139628] [PubMed: 2895320]
Crowe R R, Black D W, Wesner R, Andreasen N C, Cookman A, Roby J: Lack of linkage to chromosome 5q11-q13 markers in six schizophrenia pedigrees. Arch. Gen. Psychiat. 48:357-361, 1991. [PubMed: 2009035]
McGillivray B C, Bassett A S, Langlois S, Pantzar T, Wood S: Familial 5q11.2 to q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. AJMG 35:10-13, 1990. [PMC free article: PMC3142272] [PubMed: 1967903]Mother:46,XX,inv ins(1;5)(q32.3;q13.3q11.2).,Patients 1 and 2:46,XY,-1,+der(1),inv ins(1;5)(q32.3;q13.3q11.2)mat.Using RFLP markers it is suggested that the gene for HEXB lies in the duplicated region. Location of a gene for schizophrenia in this region is also suggested.An Asian family from Canada with these two anomalies is reported.46,XY,-1,+der(1),inv ins(1;5)(1pter->1q32.3::5q13.3->5q11.2::1q32.3->1qter)mat.Aberration: Inverted insertions between chromosomesMIM#: 181500Chromosomal Aneuploidy: 5q+Index Terms: SchizophreniaNegative band - Lukusa T, Van Buggenhout G, Devriendt K, Meireleire J, Van Goethem G, Roelen L, Fryns J P.: Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. Ann. Genet. 41:199-204, 1998. [PubMed: 9881182]46,XY,dir dup(1)(q32.3->q42)de novo, or ,46,XY,dir dup(1)(pter->q42::q32.3->q42::q42->qter)de novoThe proband was 28 years old with MR, facial asymmetry, synophrys, strabismus, small rounded nose and full everted lower lip; partial syndactyly III-IV on the right hand, and bilateral complete syndactyly of toes II and III.Aberration: Direct duplicationMIM#: 185900Chromosomal Aneuploidy: 1q+Index Terms: Zygodactyly
- Van Buggenhout G, de Coen L, Fryns J P. : Partial trisomy 1q (1q32->1qter) in adulthood: further delineation of the phenotype. Ann. Genet. 41:77-81, 1998. [PubMed: 9706337]46,XX,der(8)t(1;8)(q32.3;p23)de novoThe patient was 31 years old, severely mentally retarded with craniofacial dysmorphism, long face, epicanthal folds and downslanting palpebral fissures.FISH studies were done.Aberration: Reciprocal translocationChromosomal Aneuploidy: 1q+
- Youssoufian H, Chance P, Tuck-Muller C M, Jabs E W: Association of a new chromosomal deletion \del(1)(q32q42)\ with diaphragmatic hernia: assignment of a human ferritin gene. Hum. Genet. 78:267-270, 1988. [PubMed: 3162227]Proband WT. H sub-unit of the ferritin gene.46,XY,del(1)(pter -> q32.3::q42.3 -> qter).Cell Strain JS.Aberration: Interstitial deletionMIM#: 134770Index Terms: Hernia ... diaphragmaticNegative band
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 01q323.