Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

Bruno F. Gamba; Carla Rosenberg; Silvia Costa; Antonio Richieri-Costa; Lucilene A. Ribeiro-Bicudo

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Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

机译：一个男孩的唇裂/ Pa裂，身材矮小和发育延迟与5.6 pb间隙删除涉及一个10p15.3p14的男孩。

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The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14.

机译：染色体间隔10p15.3p14包含大约十二个基因。该区域与几种众所周知的人类表型有关，即HDR综合征（甲状旁腺功能低下，感觉神经性耳聋和肾发育不良）和DGS2（DiGeorge综合征2），但也有许多可变表型的报道。在具有这种缺失的患者的临床范围内，唇裂/ pal裂似乎是非常不寻常的发现。在这里，我们报告了一个男孩，该男孩出生时身材矮小，嘴唇//裂，进食有问题，在10p15.3p14时被发现缺失5.6 Mb。

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《Molecular syndromology》 |2015年第1期|共页
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Bruno F. Gamba; Carla Rosenberg; Silvia Costa; Antonio Richieri-Costa; Lucilene A. Ribeiro-Bicudo;
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1. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-Mb interstitial deletion involving 10p15.3p14 [J] . DepartmentofGeneticsUniversityofS?oPaoloS?oPaulo, DepartmentofGeneticsandEvolutionaryBiologyInstituteofBiosciences, SyndromologyDivisionHospitalforRehabilitationofCraniofacialAnomalies(HRAC), Molecular syndromology . 2015,第1期

机译：患有5.6 Mb间隙缺失的男孩的唇development裂，身材矮小和发育延迟，涉及10p15.3p14
2. A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. [J] . Chen CP, Lin SP, Tsai FJ European journal of medical genetics . 2008,第4期

机译：14qq在一个患有语言障碍、,裂，癫痫症，室间隔缺损，智力低下和发育迟缓的男孩中，第15q14缺失5.6 Mb。
3. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions. [J] . Eric T Rush, Jadd M Stevens, Warren G Sanger, American journal of medical genetics, Part A . 2013,第7期

机译：发育迟缓，听力减退，生长迟缓，唇and裂和7q34-36.1缺失的患者的报告：回顾了远端7q缺失。
4. Dental Implants in Patients with Cleft Lip, Alveolus and Palate in Riga Cleft Lip and Palate Centre [C] . I. Akota, U. Soboleva, B. Barkane International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies . 2009

机译：牙齿植入物中唇裂，肺泡和腭裂在里加裂隙唇和口感中心
5. Safety Signal Detection for Antihypertensive Drug-Induced Cleft Lip and/or Palate and Evaluation of Risk Perception for Medication Use in Pregnancy Among Mothers With Children With Cleft Lip and/or Palate. [D] . Palaska, Pinelopi-Kleio. 2013

机译：降压药物诱发的唇裂和/或Pal裂的安全性信号检测，以及对有唇裂和/或Pal裂患儿的母亲进行妊娠用药的风险感知评估。
6. Cleft Lip/Palate Short Stature and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14 [O] . Bruno F. Gamba, Carla Rosenberg, Silvia Costa, 2015

机译：5.6兆位间质缺失涉及10p15.3p14的男孩的唇Lip裂身材矮小和发育延迟
7. Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14 [O] . Bruno F. Gamba, Carla Rosenberg, Silvia Costa, 2015

机译：唇腭裂，矮小的身材，以及一个男孩的发育延迟，涉及5.6 MB的间质缺失的男孩涉及10p15.3p14

Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

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