Header

UZH-Logo

Maintenance Infos

"Essentially pure" partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3)


Röthlisberger, Benno; Kotzot, Dieter; Gnehm, Hanspeter E; Schinzel, Albert (1999). "Essentially pure" partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3). American Journal of Medical Genetics, 85(4):389-394.

Abstract

We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23→pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and with a subtelomeric probe (D17S34) the additional deletion on 17p13 is very small, and therefore, the phenotype of these two boys is most likely the result of essentially pure partial trisomy 6p. Comparison of the clinical findings with those of ten cases from the literature of dup(6p) with a breakpoint in or more distal to 6p23 allows delineation of a specific phenotype of dup(6)(p23→pter) characterized by low birth weight, growth retardation, microcephaly, and blepharophimosis, blepharoptosis, microstomia, and abnormal ears.

Abstract

We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23→pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and with a subtelomeric probe (D17S34) the additional deletion on 17p13 is very small, and therefore, the phenotype of these two boys is most likely the result of essentially pure partial trisomy 6p. Comparison of the clinical findings with those of ten cases from the literature of dup(6p) with a breakpoint in or more distal to 6p23 allows delineation of a specific phenotype of dup(6)(p23→pter) characterized by low birth weight, growth retardation, microcephaly, and blepharophimosis, blepharoptosis, microstomia, and abnormal ears.

Statistics

Citations

Dimensions.ai Metrics
16 citations in Web of Science®
18 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

1 download since deposited on 23 Jun 2023
1 download since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), trisomy (6)(p23→pter), FISH, ptosis-blepharophimosis, karyotype–phenotype correlations
Language:English
Date:6 August 1999
Deposited On:23 Jun 2023 07:11
Last Modified:29 Apr 2024 01:38
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/(SICI)1096-8628(19990806)85:4<389::AID-AJMG16>3.0.CO;2-A
PubMed ID:10398266
Other Identification Number:Corpus ID: 22338031