Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype

• Published in: American journal of medical genetics. Part A Vol. 158A; no. 9; pp. 2239 - 2244
• Main Authors: Frühmesser, Anne, Haberlandt, Edda, Judmaier, Werner, Schinzel, Albert, Utermann, Barbara, Erdel, Martin, Fauth, Christine, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-09-2012; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - genetics; Adult; Biological and medical sciences; Breakpoints; chromosomal rearrangements; Chromosome aberrations; Chromosome Deletion; Chromosome Duplication; Female; Humans; Karyotyping; Medical genetics; Medical sciences; partial monosomy/deletion 7q; partial trisomy/duplication 17p; translocation; Chromosomal aberration; Genetic mapping; Human; translocation; Partial trisomy; Partial deletion; Patient; partial trisomy/duplication 17p; Partial monosomy; chromosomal rearrangements; Chromosome E17; Cytogenetics; Abnormal chromosome; Chromosome duplication; partial monosomy/ deletion 7q; Karyotype; Chromosome translocation
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35450

Exact breakpoint determination by DNA‐array has dramatically improved the analysis of genotype–phenotype correlations in chromosome aberrations. It allows a more exact definition of the most relevant genes and particularly their isolated or combined impact on the phenotype in an unbalanced state. Here, we report on a 21‐year‐old female with severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, various minor facial dysmorphisms, and a telomeric deletion of about 4.4 Mb in 7q36.2‐>qter combined with a telomeric duplication of about 8 Mb in 17pter‐>p13.1. Fine mapping was achieved with the Illumina® Infinium HumanOmni1‐Quad v1.0 BeadChip. Most of the major clinical features correspond to the well‐known effects of haploinsufficiency of the MNX1 and SHH genes. In addition, review of the literature suggests an association of the 17p duplication with specific facial dysmorphic features and skeletal anomalies, but also an aggravating effect of the duplication‐deletion for severe growth retardation as well as sacral and corpus callosum hypoplasia by one or more genes located on the proximal half of the segmental 17p duplication could be elaborated by comparison with other patients from the literature carrying either the deletion or the duplication found in our patient. © 2012 Wiley Periodicals, Inc.