Partial trisomy 10p in two generations.

Human genetics ·Vol. 41 ·No. 2 ·1978-03-17 ·Pages 235-41

Lurie IW, Lazjuk GI, Gurevich DB, Kravtzoa GI, Nedzved MK, Shved IA

Abstract

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.

MeSH Terms

Adult Chromosomes, Human, 6-12 and X Cleft Lip/etiology Cleft Palate/etiology Clubfoot/etiology Female Humans Infant, Newborn Karyotyping Male Pedigree Polycystic Kidney Diseases/etiology Skull/abnormalities Trisomy

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Lurie I W

Lazjuk G I

Gurevich D B

Kravtzoa G I

Nedzved M K

Shved I A

References (13)

13 references, click to expand

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Ann Genet. 1976 Sep;19(3):195-7 PMID: 1086628
Precise identification of various chromosomal abnormalities.
Ann Hum Genet. 1973 Apr;36(4):375-9 PMID: 4270654
Trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).
Ann Genet. 1975 Mar;18(1):5-11 PMID: 1080038
Trisomy for the short arm of chromosome No. 10.
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Partial trisomy 10p.
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[A case of multiple congenital anomalies with familial C-G translocation].
Jinrui Idengaku Zasshi. 1970 Mar;14(4):309-15 PMID: 5464693
Partial trisomy 10p and familial translocation t(7;10)(p22;p12).
Hum Genet. 1977 Mar 14;35(3):353-6 PMID: 844878
Trisomy of the short arm of chromosome 10.
J Med Genet. 1975 Dec;12(4):412-4 PMID: 1219122
Trisomy iop.
Ann Genet. 1976 Mar;19(1):57-60 PMID: 1084124
Brother and sister with trisomy 10p: a new syndrome.
Humangenetik. 1974;23(3):163-72 PMID: 4844639
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Ann Genet. 1976 Mar;19(1):61-4 PMID: 1084125
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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00273107

Published

1978-03-17

Pages

235-41

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00273107 View journal details

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