Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
نویسندگان
چکیده
منابع مشابه
1p36 deletion syndrome: an update
Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by terminal deletions of 1p36 include developmental delay, intellectual disability, seizures, vision problems, hearing loss, short stature, distinctive facial features, brain anomalies, orofacial clefting, congenital heart defects, cardiomy...
متن کاملDeletion of chromosome 1p36 is associated with periventricular nodular heterotopia.
Periventricular heterotopia (PH) is a malformation of cortical development characterized by the ectopic localization of neuronal nodules along the lateral ventricle. Mutations in X-linked filamin A gene are the most common cause of PH, although a rarer autosomal recessive form of PH with microcephaly due to ARFGEF2 mutations has been described [Sheen et al., 2001]. Affected individuals generall...
متن کاملMultiple causes of apnea in 1p36 deletion syndrome include seizures
INTRODUCTION Apneic episodes have not previously been described in children with 1p36 deletion syndrome with seizures. Having encountered one such patient, we reviewed our experience of breathing difficulties in this syndrome, with particular attention to evidence of ictal apnea. We describe four children with 1p36 deletion syndrome, seizures and apneic episodes. METHOD Retrospective analysis...
متن کاملChromosome 11q13 deletion syndrome
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome ...
متن کاملChromosome 1p36 deletions
Disease name and synonyms Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Molecular characterization Management References
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Case Reports in Obstetrics and Gynecology
سال: 2019
ISSN: 2090-6684,2090-6692
DOI: 10.1155/2019/6753184