Synchronous pulmonary squamous cell carcinoma and mantle cell lymphoma of the lymph node [0.03%]
同步发生的肺鳞状细胞癌和淋巴结套细胞淋巴瘤
Yu Sun,Yun-Fei Shi,Li-Xin Zhou et al.
Yu Sun et al.
Synchronous occurrence of pulmonary squamous cell carcinoma and malignant lymphoma of the lymph node is not reported in the literature. We report a case of pulmonary squamous cell carcinoma coexisting with a mantle cell lymphoma involving c...
Case Reports
Case reports in genetics. 2011:2011:945181. DOI:10.1155/2011/945181 2011
Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene [0.03%]
CYP21A2基因两种少见突变所致非典型先天性肾上腺皮质增生的临床表现：须毛早现
Guy Massa,Philippe Gillis,Marianne Schwartz
Guy Massa
A Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Gene...
Case Reports
Case reports in genetics. 2011:2011:913020. DOI:10.1155/2011/913020 2011
Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly [0.03%]
15号染色体远端长臂纯双倍体伴艾宾森畸形和锁骨畸形
Rachel O&#x;Connor,Amel Al-Murrani,Salim Aftimos et al.
Rachel O&#x;Connor et al.
This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the ...
Case Reports
Case reports in genetics. 2011:2011:898706. DOI:10.1155/2011/898706 2011
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome [0.03%]
莫莫综合征伴全前脑和隐睾症：新肥胖征谱系的扩展
Sheetal Sharda,Inusha Panigrahi,Ram Kumar Marwaha
Sheetal Sharda
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the ma...
Case Reports
Case reports in genetics. 2011:2011:839650. DOI:10.1155/2011/839650 2011
A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency [0.03%]
一种新型的GCK基因缺失突变导致患儿出现临床1型糖尿病但具有2型特征性表现（常规测序无法检出）
N H Birkebæk,J S Sørensen,J Vikre-Jørgensen et al.
N H Birkebæk et al.
We report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His father...
Case Reports
Case reports in genetics. 2011:2011:768610. DOI:10.1155/2011/768610 2011
Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly [0.03%]
holoprosencephaly伴神经系统畸形的新型SHH基因突变
M Aguinaga,I Llano,J C Zenteno et al.
M Aguinaga et al.
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH) gene cause 37% of familial HPE. A couple was referred to our unit wit...
Case Reports
Case reports in genetics. 2011:2011:703497. DOI:10.1155/2011/703497 2011
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband [0.03%]
结节性硬化症家系中精神疾病相关的新突变基因SRGAP3的微重复杂合变异体研究
Nicole K A Wilson,Yohan Lee,Robert Long et al.
Nicole K A Wilson et al.
Schizophrenia is a debilitating mental disorder affecting approximately 1% of the world's population. Childhood onset schizophrenia (COS), defined as onset before age 13, is a rare and severe form of the illness that may have more salient g...
Case Reports
Case reports in genetics. 2011:2011:585893. DOI:10.1155/2011/585893 2011
Bartsocas-papas syndrome: unusual findings in the first reported egyptian family [0.03%]
巴尔托卡斯-帕帕斯综合征：在首个埃及家系中罕见的发现报告
E M Abdalla,H Morsy
E M Abdalla
Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disord...
Case Reports
Case reports in genetics. 2011:2011:428714. DOI:10.1155/2011/428714 2011
Clinical expression of an inherited unbalanced translocation in chromosome 6 [0.03%]
六号染色体遗传不平衡易位的临床表现
Bani Bandana Ganguly,Vijay Kadam,Nitin N Kadam
Bani Bandana Ganguly
Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of...
Case Reports
Case reports in genetics. 2011:2011:396450. DOI:10.1155/2011/396450 2011
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome [0.03%]
染色体14q32.33缺失的拷贝数变异检测及Dubowitz综合征患者的基因型-表型相关性分析
Diana C Darcy,Scott Rosenthal,Robert J Wallerstein
Diana C Darcy
We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH). Dubowitz syndrome is a...
Case Reports
Case reports in genetics. 2011:2011:306072. DOI:10.1155/2011/306072 2011