Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

Journal of medical genetics ·Vol. 12 ·No. 3 ·1975-09-00 ·Pages 305-7

Stern LM, Mureh AR

Abstract

The case is presented of an infant who was diagnosed clinically as trisomy 18 with pseudohermaphroditism. Cytogenetic studies revealed an extra chromosome which represented a translocation chromosome derived from a balanced, reciprocal translocation between chromosomes 16 and 18: [der(18),t(16;18)(p12;q11)mat]. The infant's mother and a number of her relatives were found to be translocation carriers: ]46,XX,t(16;18)(p12;q11)].

MeSH Terms

Chromosomes, Human, 16-18 Disorders of Sex Development/genetics Female Humans Infant Karyotyping Pedigree Translocation, Genetic Trisomy

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Stern L M

Mureh A R

References (4)

4 references, click to expand

Chromosome preparations of leukocytes cultured from human peripheral blood.
Exp Cell Res. 1960 Sep;20:613-6 PMID: 13772379
Congenital malformations in autosomal trisomy syndromes.
Am J Dis Child. 1966 Dec;112(6):502-17 PMID: 5333302
Hormonal and clinical aspects of hermaphroditism and the testicular feminizing syndrome in man.
Philos Trans R Soc Lond B Biol Sci. 1970 Aug 6;259(828):187-204 PMID: 4399064
A rapid banding technique for human chromosomes.
Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.12.3.305

Published

1975-09-00

Pages

305-7

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013296

Subset

External Links

PubMed source DOI: 10.1136/jmg.12.3.305 PMC Full Text View journal details

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Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

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