Interstitial deletion 13q syndromes: a report on two unrelated patients.

Human genetics ·Vol. 52 ·No. 3 ·1979-00-00 ·Pages 269-74

Serena-Lungarotti M, Calabro A, Mariotti G, Mastroiacovo PP, Provenzano S, Dallapiccola B

Abstract

A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.

MeSH Terms

Adolescent Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Human, 13-15 Female Humans Intellectual Disability/genetics Karyotyping Phenotype Psychomotor Disorders/genetics

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Serena-Lungarotti M

Calabro A

Mariotti G

Mastroiacovo P P

Provenzano S

Dallapiccola B

References (11)

11 references, click to expand

Deletion long arm 13.
Hum Genet. 1977 Jul 26;37(3):339-45 PMID: 885554
Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.
Clin Genet. 1976 Jun;9(6):593-602 PMID: 1277571
Retinoblastoma and subband deletion of chromosome 13.
Am J Dis Child. 1978 Feb;132(2):161-3 PMID: 626181
[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].
Ann Genet. 1978 Sep;21(3):189-92 PMID: 315197
Chromosomal anomalies in patients with retinoblastoma.
Clin Genet. 1977 Jul;12(1):1-8 PMID: 891004
Retinoblastoma and long arm delection of chromosome 13. Attempts to define the deleted segment.
Clin Genet. 1974;5(5):457-64 PMID: 4854145
Chromosomal deletion and retinoblastoma.
N Engl J Med. 1976 Nov 11;295(20):1120-3 PMID: 980006
Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13.
Ann Hum Genet. 1975 Jan;38(3):295-303 PMID: 1137344
A case of D13 ring chromosome.
Hum Genet. 1979 Jan 19;46(1):111-4 PMID: 429001
Chromosome banding patterns in an infant with 13q minus syndrome.
Humangenetik. 1974 Mar 28;21(4):309-14 PMID: 4134627
[A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)].
Hum Genet. 1978 Oct 31;44(2):219-26 PMID: 730167

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00278676

Published

1979-00-00

Pages

269-74

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00278676 View journal details

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Interstitial deletion 13q syndromes: a report on two unrelated patients.

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