Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

Nirmala D.Sirisena; U. Kalpani S.Wijetunge; Ramyade Silva; Vajira H. W.Dissanayake

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Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

机译：患有颅面畸形，发育迟缓和多发性先天性畸形的9p缺失综合征儿童

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A 4-month-old Sri Lankan male child case with ade novoterminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. This is the first reported case of ade novodeletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome.

机译：描述了一个4个月大的斯里兰卡男性儿童病例，其9号染色体的p22→pter区具有ade novoterminal缺失。这名儿童表现出颅面部畸形，发育迟缓和先天性畸形，与共有表型一致。在这个孩子中观察到的一个明显特征是由于肺组织畸形导致左肺完全塌陷。细胞遗传学研究证实，p22带[46，XY，del（9）（p22→pter）]远端9号染色体短臂末端缺失。这是与肺发育不全相关的首例ade novodeletion 9p综合征病例。这一发现有助于拓宽与删除9p综合征相关的表型特征的范围。

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《Case Reports in Genetics》 |2013年第2期|共4页
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Nirmala D.Sirisena; U. Kalpani S.Wijetunge; Ramyade Silva; Vajira H. W.Dissanayake;
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1. Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome. [J] . Chang CF, Li LH, Wang CH, American journal of medical genetics, Part A . 2010,第9期

机译：通过高密度寡核苷酸阵列（可识别的综合征）鉴定身高矮小，发育迟缓和颅面异常的儿童的亚显微3.2 Mb染色体16q12.2-13缺失。
2. Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism [J] . Beleza-MeirelesA., MatosoE., RamosL., American journal of medical genetics, Part A . 2013,第3期

机译：隐性7q36.2q36.3缺失导致多个先天性眼部异常和颅面畸形
3. Monozygotic twins with a de novo 0.32Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation [J] . Gronborg Sabine, Kjaergaard Susanne, Hove Hanne, American journal of medical genetics, Part A . 2015,第11期

机译：具有从头0.32Mb 16q24.3缺失的单卵双胞胎，包括TUBB3表现为发育延迟和轻度面部畸形，但没有明显的脑畸形
4. Pancreatic malformations as seen in congenital syndromes — Developmental perspective with an alternative view [C] . Jianhua Li, Yueyang Teng, Shouliang Qi, IEEE International Conference on Information and Automation . 2016

机译：先天性综合征中所见的胰腺畸形—发育观点和其他观点
5. Down syndrome (trisomy 21): Developmental implications from morphometric investigations of the effects of gene-dosage imbalance upon craniofacial phenotypes in humans and the Ts1Yey Down syndrome mouse model. [D] . Starbuck, John Marlow. 2012

机译：唐氏综合症（21三体综合征）：从形态计量学研究中得出的发展意义，该研究涉及基因剂量不平衡对人和Ts1Yey唐氏综合症小鼠模型的颅面表型的影响。
6. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism Developmental Delay and Multiple Congenital Malformations [O] . Nirmala D. Sirisena, U. Kalpani S. Wijetunge, Ramya de Silva, 2013

机译：患有颅面畸形发育迟缓和多发性先天性畸形的9p缺失综合征儿童
7. Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations [O] . Mark W. Russell, Maide O. Raeker, Sarah B. Geisler, 2014

机译：2Q13缺失综合征中候选基因的功能分析意味着先天性心脏缺陷和FBLN7中的FBLN7和TMEM87B缺陷在颅面形状畸形中

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

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