Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study
نویسندگان
چکیده
منابع مشابه
Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).
Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and ...
متن کاملThe Wolf-Hirschhorn Syndrome in Fetal Autopsy - A Case Report -
Wolf-Hirschhorn syndrome (WHS) is one of multiple congenital anomaly/mental retardation (MCA/MR) syndromes and is caused by partial deletion of the short arm of chromosome 4, particularly in the Wolf-Hirschhorn syndrome critical region-1 (WHSCR1) and Wolf-Hirschhorn syndrome critical region-2 (WHSCR2), which are located in chromosome 4p16.3. Loss of these regions is indeed the cause of WHS, and...
متن کاملWolf-Hirschhorn syndrome.
Chromosomal abnormalities are important cause of mental retardation and congenital anomalies. We report a case of a rare chromosomal disorder, Wolf-Hirschhorn syndrome, caused by deletion of short arm of chromosome 4. It was characterized by well-described facial appearance, seizures, microcephaly and midline closure defects along with growth and mental retardation.
متن کاملWolf–Hirschhorn (4p-) syndrome with West syndrome
Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalo...
متن کاملPhenotypic Variations in Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic "Greek helmet" like face, seizures and midline defects in the brain, heart, palate and genitalia. Recently-used molecular techniques increase the number of diagnosed cases due to th...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2012
ISSN: 0971-6866
DOI: 10.4103/0971-6866.96677