A Phenotype Map for 14q32.3 Terminal Deletions

作者：Engels Hartmut^*; Schueler Herdit M; Zink Alexander M; Wohlleber Eva; Brockschmidt Antje; Hoischen Alexander; Drechsler Matthias; Lee Jennifer A; Ludwig Kerstin U; Kubisch Christian; Schwanitz Gesa; Weber Ruthild G; Leube Barbara; Hennekam Raoul C M; Rudnik Schoeneborn Sabine; Kreiss Nachtsheim Martina; Reutter Heiko

来源：American Journal of Medical Genetics, Part A, 2012, 158A(4): 695-706.

DOI：10.1002/ajmg.a.35256

• 14q terminal deletion syndrome
• molecular karyotyping
• genotype-phenotype correlation
• intellectual disability

Detailedmolecular-cytogenetic studies combined with thorough clinical characterization are needed to establish genotype-phenotype correlations for specific chromosome deletion syndromes. Although many patients with subtelomeric deletions have been reported, the phenotype maps for many of the corresponding syndromes, including the terminal deletion 14q syndrome, are only slowly emerging. Here, we report on five patients with terminal partial monosomy of 14q32.3 and characteristic features of terminal deletion 14q syndrome. Four of the patients carry de novo terminal deletions of 14q, three of which have not yet been reported. One patient carries an unbalanced translocation der(14) t(9; 14)(q34.3;q32.3). Minimum deletion sizes as determined by molecular karyotyping and FISH are 5.82, 5.56, 4.17, 3.54, and 3.29 Mb, respectively. Based on our findings and a comprehensive review of the literature, we refine the phenotype map for typical clinical findings of the terminal deletion 14q syndrome (i.e., intellectual disability/developmental delay, muscular hypotonia, postnatal growth retardation, microcephaly, congenital heart defects, genitourinary malformations, ocular coloboma, and several dysmorphic signs). Combining this phenotype map with benign copy-number variation data available from the Database of Genomic Variants, we propose a small region critical for certain features of the terminal deletion 14q syndrome which contains only seven RefSeq genes.

• 出版日期2012-4