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[Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15].
Klin Padiatr. 2000 Jan-Feb; 212(1):35-40.KP

Abstract

Trisomy 10p is a rare chromosomal syndrome, characterized by craniofacial abnormalities, malformations of organs and skeleton, and impaired psychomotor development. In most of the cases partial trisomy 10p results of a balanced translocation or inversion, the mother being carrier of the structural abnormality. Only eight of 63 patients with trisomy 10p found in a literature survey present a de novo trisomy. 17 cases show a pure trisomy 10p without an associated deficiency of any other chromosome segment. We report a female patient with an interchromosomal de novo duplication 10p11.2-->15, demonstrating typical clinical signs like craniofacial abnormalities, oral cleft, club foot, seizures, and a severe delay of psychomotor development.

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Authors+Show Affiliations

Fechtrup B
Kinderklinik, Städtische Kliniken Dortmund.
Kalhoff H
No affiliation info available
Diekmann L
No affiliation info available
Fritz B
No affiliation info available

MeSH

Abnormalities, MultipleChromosome AberrationsChromosome DisordersChromosomes, Human, Pair 10DNA ProbesFemaleGene LibraryHumansInfantInfant, NewbornMutationPhenotypePrognosisSeizuresSyndromeTrisomy

Pub Type(s)

Case Reports
English Abstract
Journal Article
Review

Language

ger

PubMed ID

10719682

Citation

Fechtrup, B, et al. "[Trisomy of the Short Arm of Chromosome 10p; Description of a Female Patient With De Novo Duplication 10p11.2-15]." Klinische Padiatrie, vol. 212, no. 1, 2000, pp. 35-40.
Fechtrup B, Kalhoff H, Diekmann L, et al. [Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15]. Klin Padiatr. 2000;212(1):35-40.
Fechtrup, B., Kalhoff, H., Diekmann, L., & Fritz, B. (2000). [Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15]. Klinische Padiatrie, 212(1), 35-40.
Fechtrup B, et al. [Trisomy of the Short Arm of Chromosome 10p; Description of a Female Patient With De Novo Duplication 10p11.2-15]. Klin Padiatr. 2000 Jan-Feb;212(1):35-40. PubMed PMID: 10719682.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15]. AU - Fechtrup,B, AU - Kalhoff,H, AU - Diekmann,L, AU - Fritz,B, PY - 2000/3/17/pubmed PY - 2000/4/15/medline PY - 2000/3/17/entrez SP - 35 EP - 40 JF - Klinische Padiatrie JO - Klin Padiatr VL - 212 IS - 1 N2 - Trisomy 10p is a rare chromosomal syndrome, characterized by craniofacial abnormalities, malformations of organs and skeleton, and impaired psychomotor development. In most of the cases partial trisomy 10p results of a balanced translocation or inversion, the mother being carrier of the structural abnormality. Only eight of 63 patients with trisomy 10p found in a literature survey present a de novo trisomy. 17 cases show a pure trisomy 10p without an associated deficiency of any other chromosome segment. We report a female patient with an interchromosomal de novo duplication 10p11.2-->15, demonstrating typical clinical signs like craniofacial abnormalities, oral cleft, club foot, seizures, and a severe delay of psychomotor development. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/10719682/[Trisomy_of_the_short_arm_of_chromosome_10p L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2000-9649 DB - PRIME DP - Unbound Medicine ER -