Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in theL1CAMgene
نویسندگان
چکیده
منابع مشابه
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.
We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5...
متن کاملPrenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.
The outcome of four successive pregnancies in a woman heterozygous for X linked hydrocephalus is described. The last two were scanned by ultrasound. In one, a good prognosis was given; the fetus was male but there was no evidence of dilated cerebral ventricles. In the other, hydrocephalus was diagnosed. The absence of aqueductal stenosis in this case supports the hypothesis that in this X linke...
متن کاملX-linked hydrocephalus.
Since the original description of a sex-linked mode of inheritance in congenital hydrocephalus (Bickers and Adams, 1949), subsequent reports have been published presenting additional families in which this inheritance pattern appeared to be present. Bamatter (1949) described a family in which the mother had delivered 2 hydrocephalic males and 3 normal females. Zimmer (1952) reviewed a family wi...
متن کامل[Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].
OBJECTIVE To evaluate the diagnostic feasibility of mutation analysis and prenatal genetic diagnosis genetic analysis of IL2RG gene in two families with a birth history of X-linked severe combined immunodeficiency (X-SCID). METHODS Blood samples of a male infant patient of X-SCID and his mother in family 1 and the parents of another deceased child with X-SCID in family 2 from January 2012 to ...
متن کاملNew strategy for prenatal diagnosis of X-linked disorders.
Letters to the editor are considered for publication (subject to editing and abridgment) provided they do not contain material that has been submitted or published elsewhere. Please note the following: •Your letter must be typewritten and triple-spaced. •Its text, not including references, must not exceed 250 words if it is in reference to a recent Journal article and 400 words in all other cas...
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: Congenital Anomalies
سال: 2014
ISSN: 0914-3505
DOI: 10.1111/cga.12069