Journal
GENE
Volume 521, Issue 2, Pages 311-315Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2013.03.100
Keywords
7q22-q31 deletion; Chromosome 7q; Facial cleft; Hypogenitalism; Interstitial deletion; Prenatal diagnosis
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Funding
- National Science Council [NSC-99-2628-B195-001-MY3, NSC-101-2314-B-195-011-MY3]
- Mackay Memorial Hospital, Taipei, Taiwan [MMH-E-101-04]
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We present prenatal diagnosis and molecular cytogenetic characterization of de novo interstitial deletion of 7q (7q22.1 -> q31.1) by aCGH, FISH and QF-PCR in a fetus with an abnormal maternal serum screening result and ultrasound findings of facial cleft and hypogenitalism. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of ZKSCAN5, ARPC1A, CYP3A43, RELN, IAMBI, IMMP2L and DOCK4 in this case. (C) 2013 Elsevier B.V. All rights reserved.
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