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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
Author(s) -
Freitas Érika L.,
Gribble Susan M.,
Simioni Milena,
Vieira Társis P.,
SilvaGrecco Roseane L.,
Balarin Marly A. S.,
Prigmore Elena,
KrepischiSantos Ana C.,
Rosenberg Carla,
Szuhai Karoly,
van Haeringen Arie,
Carter Nigel P.,
GildaSilvaLopes Vera Lúcia
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34168
Subject(s) - monosomy , comparative genomic hybridization , gene duplication , genetics , hypertelorism , biology , trisomy , holoprosencephaly , chromosome , karyotype , gene , pregnancy , fetus
We report on a 17‐year‐old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1–p24.3 region and a 14.83 Mb duplication in the 20p12.1–p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well‐delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT , DOCK8 , FOXD4 , VLDLR , RSPO4 , AVP , RASSF2 , PROKR2 , BMP2 , MKKS , and JAG1 , all genes mapping to the deleted and duplicated regions. © 2011 Wiley Periodicals, Inc.