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Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25)


Schinzel, Albert (1981). Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25). Journal of Medical Genetics, 18(1):64-68.

Abstract

A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias, and cubitus valgus. He had normal stature and did not have any apparent malformations.

Abstract

A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias, and cubitus valgus. He had normal stature and did not have any apparent malformations.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics
Language:English
Date:February 1981
Deposited On:25 Oct 2023 06:49
Last Modified:29 Apr 2024 01:40
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Publisher DOI:https://doi.org/10.1136/jmg.18.1.64
Related URLs:http://www.ncbi.nlm.nih.gov/pmc/articles/pmc1048662/ (Library Catalogue)
PubMed ID:7253002
Other Identification Number:Corpus ID: 32976345 / PMCID: PMC1048662