A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

Human genetics ·Vol. 33 ·No. 3 ·1976-08-30 ·Pages 213-22

Jotterand M, Juillard E

Abstract

The first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical signs were microcephaly, hemangiomata, long incurved eyelashes, strabismus, enlarged bridge of the nose, abnormally long philtrum, high-arched palate, low set ears, hexadactyly of the four extremities, umbilical and inguinal hernias, neonatal respiratory distress, psychomotor and growth retardation. The proband presented also male pseudohermaphroditism and trigonocephaly. This last trait is the object of a discussion in which cases of partial trisomy 13q cited in the literature are considered for study of the incidence of this dyscephaly in this partial syndrome.

MeSH Terms

Abnormalities, Multiple/genetics Child, Preschool Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 6-12 and X Consanguinity Disorders of Sex Development/genetics Head/abnormalities Humans Infant Male Pedigree Phenotype Translocation, Genetic Trisomy

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Jotterand M

Juillard E

References (17)

17 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00286845

Published

1976-08-30

Pages

213-22

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00286845 View journal details

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A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21).

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