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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.

Authors+Show Affiliations

Kinderklinik, Städtische Kliniken Dortmund.No affiliation info availableNo affiliation info availableNo affiliation info available

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 -