Patrick D Brophy
Patrick D Brophy
A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18 [0.03%]
第18三体综合征合并前段发育不良及后粘连病例报告
Paldeep S Atwal
Paldeep S Atwal
Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ...
Leonardo I Valentin,Luis Perez,Prakash Masand
Leonardo I Valentin
Very few reports exist in the literature regarding a possible association between trisomy 18 patients and the incidence of hepatoblastoma. Fewer reports exist on patients with multifocal hepatoblastoma. We reviewed our institutional databas...
A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome [0.03%]
Miller-Dieker综合征(17p13.3缺失)合并22q11.2缺失综合征病例报告
Paldeep S Atwal,C Macmurdo
Paldeep S Atwal
Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 2...
A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement [0.03%]
新的复杂的小的额外标记染色体病例：由于母系平衡易位导致的Der（9）t（7;9）（p22; q22）
Marine Manvelyan,Izabella Simonyan,Galina Hovhannisyan et al.
Marine Manvelyan et al.
Complex small supernumerary marker chromosomes (sSMCs) constitute one of the smallest subsets within the patients with an sSMC. Complex sSMCs consist of chromosomal material derived from more than one chromosome, for example, the derivative...
A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family [0.03%]
一个TPO基因纯合子重复突变(c.1184_1187dup4)可导致近亲结婚家庭中三个孩子的先天性甲状腺功能减退症
Hakan Cangul,Banu K Aydin,Firdevs Bas
Hakan Cangul
Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of congenital hypothyroi...
Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits [0.03%]
新的8p23.1微缺失患者的基因芯片分析及非典型临床表型研究
Hela Ben Khelifa,Molka Kammoun,Hanene Hannachi et al.
Hela Ben Khelifa et al.
We describe two patients carrying deletions of chromosome 8p23.1 with a commonly critical region identified by means of oligonucleotide array comparative genomic hybridization (array CGH). They didn't present congenital heart defects or beh...
Silvia Spena,Cristina Gervasini,Donatella Milani
Silvia Spena
Rubinstein-Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic crit...
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge [0.03%]
皮特-霍普金斯综合征的分子和临床诊断挑战及鉴别诊断
Giuseppe Marangi,Marcella Zollino
Giuseppe Marangi
Pitt-Hopkins syndrome is an emerging neurodevelopmental disorder caused by haploinsufficiency of the TCF4 gene on chromosome 18q21. It is characterized by severe intellectual disability, seizures, microcephaly, constipation and a distinctiv...
Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes [0.03%]
与基因剂量异常相关的神经发育障碍：史密斯-马格尼斯综合征和波托奇斯基-卢普斯基综合征
Juanita Neira-Fresneda,Lorraine Potocki
Juanita Neira-Fresneda
Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11.2 region. Approximately 3.6 Mb microduplication of 17p11.2, known as PTLS, represents the mechanist...