Donovan Calder,Maryse Etienne-Julan,Marc Romana et al.
Donovan Calder et al.
A patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease. T...
Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) [0.03%]
4号染色体长臂缺失(Del(4)(q31.3))的新生儿患者出现新的血管畸形病变
Norma Elena de León Ojeda,Michel Soriano-Torres,Mercedes J Cabrera et al.
Norma Elena de León Ojeda et al.
We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a p...
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome [0.03%]
染色体4qter增加和5pter丢失：一例具有猫叫综合征特征的罕见病例
Frenny Sheth,Naresh Gohel,Thomas Liehr et al.
Frenny Sheth et al.
Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassing CTNND2 due to an unbalanced translocation of chromosomes 4 and 5. This rearrangem...
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation [0.03%]
康内利亚症候群：一例携带有NIPBL基因突变的肛门闭锁新生儿病例报告
Rose H Mende,David P Drake,Raimos M Olomi et al.
Rose H Mende et al.
Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of mor...
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient [0.03%]
莫瓦特-威尔逊综合征：一位印度尼西亚患者的首份临床及分子报告
Farmaditya E P Mundhofir,Helger G Yntema,Ineke van der Burgt et al.
Farmaditya E P Mundhofir et al.
Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other f...
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports [0.03%]
狼-希里歇恩综合征的基因型表型特征（FISH确证）-病例报告
F Sheth,O R Akinde,C Datar et al.
F Sheth et al.
The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in C...
Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14 [0.03%]
胎儿先心病合并14号环状染色体的产前诊断
Javier Sánchez,Lutgardo García-Díaz,David Chinchón et al.
Javier Sánchez et al.
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that incl...
Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrhea [0.03%]
一条非罗伯逊易位型14号染色体与19号染色体嵌合体的分子细胞遗传学表征：短小身材和无月经女孩中发现的新畸变类型
Usha R Dutta,Vijaya Kumar Pidugu,Ashwin Dalal
Usha R Dutta
We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cyt...
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family [0.03%]
印度一家系FAH基因新型突变的鉴定及胎儿酪氨酸血症的产前诊断
Jayesh J Sheth,Chitra M Ankleshwaria,Rajeshwari Pawar et al.
Jayesh J Sheth et al.
Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 1...
Prenatal diagnosis and postnatal followup of partial trisomy 13q and partial monosomy 10p: a case report and review of the literature [0.03%]
13号染色体部分三倍体和10号染色体部分单体的产前诊断及随访：病例报告及文献复习
Yuan Wei,Xuefeng Gao,Liying Yan et al.
Yuan Wei et al.
We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by his...