Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.

European journal of pediatrics ·Vol. 149 ·No. 9 ·1990-06-00 ·Pages 618-20

Hamers A, Jongbloet P, Peeters G, Fryns JP, Geraedts J

Abstract

We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter----q23.3: :q24.13----qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q.

MeSH Terms

Adult Chromosome Deletion Chromosomes, Human, Pair 8 Foot Deformities, Congenital Hand Deformities, Congenital Humans Hypotrichosis Intellectual Disability Male Nose/abnormalities Syndrome

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Hamers A

Department of Genetics and Cell Biology, University of Limburg Maastricht, The Netherlands.

Jongbloet P

Peeters G

Fryns J P

Geraedts J

References (18)

18 references, click to expand

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Article Info

Journal

European journal of pediatrics

Abbr.

Eur J Pediatr

ISSN

0340-6199

DOI

10.1007/BF02034746

Published

1990-06-00

Pages

618-20

Language

English

Region

Germany

NLM ID

7603873

Subset

External Links

PubMed source DOI: 10.1007/BF02034746 View journal details

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Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.

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