Partial monosomy of the short arm of chromosome 9: a distinct clinical entity.

Human genetics ·Vol. 44 ·No. 2 ·1978-10-31 ·Pages 195-200

Deroover J, Fryns JP, Parloir C, Haegeman J, van den Berghe H

Abstract

A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germinal deletion in this case.

MeSH Terms

Child Chromosome Deletion Chromosomes, Human/ultrastructure Chromosomes, Human, 6-12 and X Female Humans Intellectual Disability/genetics Karyotyping Phenotype

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Deroover J

Fryns J P

Parloir C

Haegeman J

van den Berghe H

References (11)

11 references, click to expand

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Ugeskr Laeger. 1977 Jan;139(4):204 PMID: 835175
Deletion in the short arm of chromosome 9 from a subject with congenital cerebral maldevelopment. Repository identification No. GM-870.
Cytogenet Cell Genet. 1976;17(5):296-7 PMID: 1017321
A case of 9p- syndrome.
Hum Genet. 1977 Aug 31;38(1):107-11 PMID: 903150
The deletion 9p syndrome. A 61-year-old man with deletion of short arm 9.
Clin Genet. 1977 Aug;12(2):80-4 PMID: 891016
[Partial deletion of the short arm of the chromosome 9].
Ann Genet. 1976 Jun;19(2):143 PMID: 1085605
Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.
Ann Genet. 1973 Mar;16(1):17-22 PMID: 4541805
The 9p--syndrome.
Birth Defects Orig Artic Ser. 1976;12(5):157-60 PMID: 953217
The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction.
Clin Genet. 1977 Mar;11(3):219-23 PMID: 837573
The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation.
Clin Genet. 1975 Nov;8(5):349-57 PMID: 1204232
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Ann Genet. 1976 Mar;19(1):11-6 PMID: 1084115
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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00295414

Published

1978-10-31

Pages

195-200

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00295414 View journal details

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Partial monosomy of the short arm of chromosome 9: a distinct clinical entity.

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