Universität zu Köln

Hagen, Anja, Bigl, Arndt, Wand, Dorothea, Klopocki, Eva ORCID: 0000-0003-1438-2081, Heller, Raoul, Siekmeyer, Manuela, Siekmeyer, Werner, Kiess, Wieland and Merkenschlager, Andreas (2011). Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings. Am. J. Med. Genet. A, 155A (12). S. 3075 - 3082. MALDEN: WILEY-BLACKWELL. ISSN 1552-4825

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Abstract

Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due to a balanced parental translocation t(11;22). Occasionally a chromosome other than 22 is involved in the parental translocation with chromosome 11, resulting in partial monosomy for the other participating chromosome. We report of a patient with partial trisomy 11q and partial monosomy 10p [46,XX,der(10)t(10;11)(p15;q22)] due to a paternal balanced translocation [46,XY,t(10;11)(p15;q22)]. Array CGH showed heterozygosity for a deletion of similar to 3.46?Mb at 10p15.3p15.2 and gain of similar to 32.21?Mb at 11q22.2q25. The patient, a 19-year-old woman, has a multiple congenital anomaly syndrome with severe developmental and growth delay, muscular hypotonia, iris coloboma, abnormal external ears, widely spaced nipples, atrial septum defect, clubfoot, and arthrogryposis multiplex congenita. Despite multiple health problems and numerous hospitalizations due to massive seizures, pulmonary insufficiency and recurrent infections the patient reached adulthood. The clinical features in our patient are compared to other cases reported in the literature of either partial monosomy 10p or partial trisomy 11q. To the best of our knowledge, this is the first report of the combination of partial trisomy 11q and partial monosomy 10p. Comparing the molecular karyotype and the phenotype of our patient to other patients, the clinical features of our patient are more likely due to partial trisomy 11q than to partial monosomy 10p. (C) 2011 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hagen, Anja UNSPECIFIED UNSPECIFIED UNSPECIFIED Bigl, Arndt UNSPECIFIED UNSPECIFIED UNSPECIFIED Wand, Dorothea UNSPECIFIED UNSPECIFIED UNSPECIFIED Klopocki, Eva UNSPECIFIED orcid.org/0000-0003-1438-2081 UNSPECIFIED Heller, Raoul UNSPECIFIED UNSPECIFIED UNSPECIFIED Siekmeyer, Manuela UNSPECIFIED UNSPECIFIED UNSPECIFIED Siekmeyer, Werner UNSPECIFIED UNSPECIFIED UNSPECIFIED Kiess, Wieland UNSPECIFIED UNSPECIFIED UNSPECIFIED Merkenschlager, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-484563
DOI:	10.1002/ajmg.a.34300
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	155A
Number:	12
Page Range:	S. 3075 - 3082
Date:	2011
Publisher:	WILEY-BLACKWELL
Place of Publication:	MALDEN
ISSN:	1552-4825
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DIGEORGE-SYNDROME; BALANCED TRANSLOCATION; CHROMOSOME 10P; DUPLICATION; REGION; HYPOPARATHYROIDISM; DELETIONS; FAMILY Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48456