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Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
Am J Med Genet. 1989 Aug; 33(4):505-7.AJ

Abstract

We report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20 month-old boy has dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, and partial leukodermia. He does not have mental retardation or any skeletal abnormalities. Family history was unremarkable. Cytogenetic studies demonstrated that the patient has a paracentric inversion (2)(q35q37.3); his parents have normal chromosomes. These findings suggest that the locus of the gene for Waardenburg syndrome type I may be at 2q35 or 2q37.3.

Authors+Show Affiliations

Division of Medical Genetics, Chiba Children's Hospital, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2596512

Citation

Ishikiriyama, S, et al. "Waardenburg Syndrome Type I in a Child With De Novo Inversion (2)(q35q37.3)." American Journal of Medical Genetics, vol. 33, no. 4, 1989, pp. 505-7.
Ishikiriyama S, Tonoki H, Shibuya Y, et al. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). Am J Med Genet. 1989;33(4):505-7.
Ishikiriyama, S., Tonoki, H., Shibuya, Y., Chin, S., Harada, N., Abe, K., & Niikawa, N. (1989). Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). American Journal of Medical Genetics, 33(4), 505-7.
Ishikiriyama S, et al. Waardenburg Syndrome Type I in a Child With De Novo Inversion (2)(q35q37.3). Am J Med Genet. 1989;33(4):505-7. PubMed PMID: 2596512.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). AU - Ishikiriyama,S, AU - Tonoki,H, AU - Shibuya,Y, AU - Chin,S, AU - Harada,N, AU - Abe,K, AU - Niikawa,N, PY - 1989/8/1/pubmed PY - 1989/8/1/medline PY - 1989/8/1/entrez SP - 505 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 33 IS - 4 N2 - We report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20 month-old boy has dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, and partial leukodermia. He does not have mental retardation or any skeletal abnormalities. Family history was unremarkable. Cytogenetic studies demonstrated that the patient has a paracentric inversion (2)(q35q37.3); his parents have normal chromosomes. These findings suggest that the locus of the gene for Waardenburg syndrome type I may be at 2q35 or 2q37.3. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2596512/Waardenburg_syndrome_type_I_in_a_child_with_de_novo_inversion__2__q35q37_3__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=33&issue=4&spage=505 DB - PRIME DP - Unbound Medicine ER -