Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.

American journal of medical genetics ·Vol. 32 ·No. 1 ·1989-01-00 ·Pages 133-5

Yamamoto Y, Oguro N, Miyao M, Yanagisawa M

Abstract

Here we report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 8 [46,XY,del(8)(pter----q23.3::q24.13----qter)]. He had the facial features of the tricho-rhino-phalangeal (TRP) syndrome and severe mental retardation, but lacked multiple exostoses. This is the first report with such a peculiar combination of abnormalities and interstitial deletion of 8q.

MeSH Terms

Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 8 Exostoses, Multiple Hereditary/genetics Facial Expression Fingers/abnormalities Hair/abnormalities Humans Infant, Newborn Intellectual Disability/genetics Male Nose/abnormalities Phenotype Syndrome

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Yamamoto Y

Department of Pediatrics, Jichi Medical School, Tochigi, Japan.

Oguro N

Miyao M

Yanagisawa M

Article Info

Journal

American journal of medical genetics

Abbr.

Am J Med Genet

ISSN

0148-7299

DOI

10.1002/ajmg.1320320128

Published

1989-01-00

Pages

133-5

Language

English

Region

United States

NLM ID

7708900

Subset

External Links

PubMed source DOI: 10.1002/ajmg.1320320128

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