Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

被引：0
作者：
Anouck Schneider
Brigitte Benzacken
Agnès Guichet
Alain Verloes
Dominique Bonneau
Nathalie Collot
Florence Dastot-Le-Moal
Michel Goossens
Laurence Taine
Emilie Landais
Dominique Gaillard
Martine Doco-Fenzy
机构：
[1] Service de Génétique,
[2] CHU,undefined
[3] UFR de médecine,undefined
[4] IFR53,undefined
[5] Service d’Histologie-Embryologie-Cytogénétique,undefined
[6] AP-HP,undefined
[7] Hôpital Jean Verdier,undefined
[8] Service de Génétique,undefined
[9] CHU et INSERM U-694,undefined
[10] Unité de Génétique Clinique,undefined
[11] AP-HP,undefined
[12] Hôpital Robert Debré,undefined
[13] Laboratoire de Biochimie Génétique,undefined
[14] AP-HP,undefined
[15] et INSERM U-841,undefined
[16] CHU Henri Mondor,undefined
[17] Service de Génétique Médicale,undefined
[18] CHU Pellegrin,undefined
来源：
European Journal of Human Genetics | 2008年 / 16卷
关键词：
chromosome band 14q32; 14q telomere; terminal deletion; chromosome 14; corpus callosum;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Among previously reported cases of 14q terminal deletions, only 11 have dealt with pure terminal deletion of 14q (14q3–14qter) and the break points were mapped by fluorescent in situ hybridisation (FISH) or genotyping in only four of them. Thanks to a collaborative study on behalf of the ‘Association des Cytogeneticiens de langue Française’(ACLF), we report two patients with terminal deletion of the long arm of chromosome 14, del(14)(q32.2) and del(14)(q32.32), diagnosed by subtelomere screening. In the two cases, a thick nuchal skinfold was detected by early ultrasound with normal prenatal karyotype. Their postnatal phenotype included large forehead, narrow palpebral fissures, epicanthic folds, upturned tip of the nose, narrow mouth and thin upper lip, microretrognathia, prominent earlobes, hypotonia, delayed psychomotor development and hypoplastic corpus callosum. By physical mapping using FISH, the size of the deletions was measured for patients 1 and 2: 6.55±1.05 and 4.67±0.10 Mb, respectively. The paternal origin of the deleted chromosome 14 was established by genotyping of microsatellites for patient 1 and the phenotype of terminal del(14)(q32) was compared to maternal uniparental disomy 14.
引用
收藏
页码：680 / 687
页数：7
相关论文
共 110 条
[1]  
Meschede D(1998)Submicroscopic deletion in 14q32.3 through a Am J Med Genet 80 443-447
[2]  
Exeler R(2003) tandem translocation between 14q and 21p Clin Dysmorphol 12 261-265
[3]  
Wittwer B(2005)Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH Genet Couns 16 59-63
[4]  
Horst J(1993)Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture Clin Genet 43 28-33
[5]  
Leube B(1978)A case of a female infant with simultaneous occurrence of J Med Genet 15 236-238
[6]  
Majewski F(1989) terminal deletions on chromosome 14q and 20p Am J Med Genet 34 528-534
[7]  
Drechsler M(1993)Deletion 14q and pericentric inversion 14 Clin Genet 43 180-185
[8]  
Royer-Pokora B(2005)Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism Am J Med Genet A 139 146-150
[9]  
Bregant L(2006)Identification of the chromosome 14 origin of a C-negative marker associated with a 14q32 deletion by chromosome painting Am J Med Genet A 140 2324-2329
[10]  
Gersak K(1983)A paternally derived inverted duplication of distal 14q with a terminal 14q deletion J Med Genet 20 147-149
12345678910