De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation [0.03%]
新生9号染色体短臂部分三体现女性婴儿的临床表型和基因型相关性研究
Paola E Leone,Andy Pérez-Villa,Verónica Yumiceba et al.
Paola E Leone et al.
Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old...
Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19 [0.03%]
家族性噬血细胞综合征：STXBP2基因外显子19罕见突变导致的遗传性疾病
Femitha Pournami,Swati Upadhyay,Anand Nandakumar et al.
Femitha Pournami et al.
Familial hemophagocytic lymphohistiocytosis (FHLH) is a fulminant rapidly progressive disorder characterized by uncontrolled immune system activation. Over the last decade, STXBP2 mutations have been reported as causative. We report a baby ...
A Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome [0.03%]
Buschke-Ollendorf综合征家系的新致病突变研究报告
Angita Jain,Pavalan Selvam,Herjot Atwal et al.
Angita Jain et al.
Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3 . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a h...
Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant [0.03%]
ESCO2罕见变异罗伯特综合征患者的临床表型报告
Carla Bastos da Costa Almeida,Amanda Thum Welter,Gabriel Dotta Abech et al.
Carla Bastos da Costa Almeida et al.
Roberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare ESCO2 variant. The patient manifested a broad range of clinical findings including the significant, bilateral shorteni...
Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion [0.03%]
TRPS1基因未缺失的8q23.3-q24.1微缺失综合征伴有Langer-Giedion和Cornelia de Lange两种综合征的混合表型
Ana Herrero-García,Purificación Marín-Reina,Gloria Cabezuelo-Huerta et al.
Ana Herrero-García et al.
Langer-Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a ge...
Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation [0.03%]
一名软骨发育不全伴FGFR3新突变患者的临床和影像学评估
Rosario Ramos Mejía,Miriam Aza-Carmona,Mariana Del Pino et al.
Rosario Ramos Mejía et al.
Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of ...
Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea [0.03%]
囊性纤维化合并先天性氯化物腹泻所致反复发作的代谢性碱中毒
Etna Masip,Ester Donat,Begoña Polo et al.
Etna Masip et al.
Metabolic alkalosis is uncommon in infancy. Cystic fibrosis (CF) patients can develop dehydration because of sweat salt or gastrointestinal losses; with the correct salt supplementation, the electrolyte alterations can be reversed. Here, we...
A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype-c.4096A > T [0.03%]
CFTR基因新致病突变c.4096A>T导致囊性纤维化表型患者1例
Ahmet Burak Arslan,Ayşe Gül Zamani,Sevgi Pekcan et al.
Ahmet Burak Arslan et al.
Cystic fibrosis is a chronic multisystemic disease originating from functional alterations in CFTR (cystic fibrosis transmembrane conductance regulator) protein. To date, more than 300 pathogenic variants have been described in the literatu...
De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlation [0.03%]
新颖的端粒6p25.3缺失伴6q23.3 - q27重复：基因型与表现型相关性分析
Emine Ikbal Atli,Hakan Gurkan,Engin Atli et al.
Emine Ikbal Atli et al.
Duplications of 6q and deletions of 6p have been reported in more than 30 cases of live born infants and given rise to widespread abnormalities recognizable as a specific clinical syndrome. Different phenotypes have been described with vari...
Ceylan Altintas Taslicay,Elmire Dervisoglu,Ercument Ciftci et al.
Ceylan Altintas Taslicay et al.
PHACE syndrome (OMIM 606519) is a rare neurocutaneous vascular disorder, characterized by posterior fossa malformations, large cervicofacial infantile hemangiomas, arterial anomalies, aortic coarctation, cardiac abnormalities, and eye abnor...