Sura Alwan,Christina D Chambers
Sura Alwan
A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome [0.03%]
7p22.2微重复病例报道及7p22重复综合征的致病区域界定
Devin M Cox,Merlin G Butler
Devin M Cox
We report a 14-year-old Hispanic male with a microduplication of the chromosome 7p22.2 band detected through microarray analysis. He had a history of developmental delay and mild intellectual disability, asthma, myopia, proportionate short ...
Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia [0.03%]
钙敏感受体基因新突变(p.Leu123Ser)一例遗传性家族性低钙血症患者报告
Joana Regala,Branca Cavaco,Rita Domingues et al.
Joana Regala et al.
Autosomal dominant hypocalcemia, caused by activating mutations of the calcium-sensing receptor (CASR) gene, is characterized by hypocalcemia with an inappropriately low concentration of parathyroid hormone (PTH). In this report, we describ...
Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings [0.03%]
1号染色体短臂部分缺失（1p31.1），仅包含神经生长调节素基因1的两兄弟姐妹
Ann Genovese,Devin M Cox,Merlin G Butler
Ann Genovese
We present two siblings with a partial deletion of chromosome 1p31.1 involving only the neuronal growth regulator 1 (NEGR1) gene. The siblings had a history of neuropsychiatric and behavioral problems, learning difficulties, hypotonia, mild...
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening [0.03%]
22q11.2缺失综合征的实验室诊断及TBX1和FGF8基因突变筛查
Ilária C Sgardioli,Társis P Vieira,Milena Simioni et al.
Ilária C Sgardioli et al.
Velocardiofacial syndrome is one of the recognized forms of chromosome 22q11.2 deletion syndrome (22q11.2 DS) and has an incidence of 1 of 4,000 to 1 of 6,000 births. Nevertheless, the 22q11 deletion is not found in several patients with a ...
Walter M Sweeney,Steve T Lanier,Chad A Purnell et al.
Walter M Sweeney et al.
Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated ...
Hatem Zayed
Hatem Zayed
The autosomal recessive inherited Krabbe disease (KD) is a devastating pediatric lysosomal storage disorder affecting white matter of the brain. It is caused by mutations in the gene coding for the lysosomal enzyme galactocerebrosidase. Whi...
Prescription Opioids in Pregnancy and Birth Outcomes: A Review of the Literature [0.03%]
孕期使用处方阿片类药物与围产期结局：文献综述
Mahsa M Yazdy,Rishi J Desai,Susan B Brogly
Mahsa M Yazdy
Prescription opioids are used prenatally for the management of pain, as well as for opiate dependency. Opioids are known to cross the placenta and despite the evidence of possible adverse effects on fetal development, studies have consisten...
Associations between birth and one year anthropometric measurements and IGF2 and IGF2R genetic variants in African American and Caucasian American infants [0.03%]
出生时和1岁时体格测量指标与非裔美国儿童和高加索美国儿童IGF2和IGF2R基因多态性的关联研究
Adriana C Vidal,Francine Overcash,Susan K Murphy et al.
Adriana C Vidal et al.
Insulin-like growth factor 2 receptor (IGF2R) and insulin-like growth factor 2 (IGF2) genetic variants have been inconsistently associated with low birth weight and birth length in Caucasian and Asian infants, however few studies have inclu...