Mild Wolf-Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures.
نویسندگان
چکیده
Mild Wolf–Hirschhorn Phenotype in a Girl With Unbalanced t(4p;12p) Translocation Without Seizures Cinzia Galasso,* Adriana Lo-Castro, Nadia El-Malhany, Marcella Zollino, Marina Murdolo, Daniela Orteschi, Maria Luisa Manca Bitti, and Paolo Curatolo Pediatric Neurology Unit, Department of Neuroscience, ‘‘Tor Vergata’’ University of Rome, Rome, Italy Department of Medical Genetics, Catholic University of Rome, Rome, Italy Department of Paediatrics, ‘‘Tor Vergata’’ University of Rome, Rome, Italy
منابع مشابه
De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.
We present the perinatal findings of a fetus with a de novo unbalanced chromosome translocation that resulted in monosomy for proximal 14q and monosomy for distal 4p. Prenatal sonographic examination at 27 weeks of gestation showed intrauterine growth retardation, microcephaly, cardiomegaly with arrhythmia, and asymmetry of the upper limbs. Genetic amniocentesis showed an abnormal karyotype of ...
متن کاملOn the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as well as on review of relevant literature, we add further insights to the following aspects of WHS: (1) clinical delineation and phenotypic categories; (2) characterization of the basic genomic defect, mechanisms of origin and familiarity; (3) identification of prognostic factors for mental retarda...
متن کاملTwo sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.
A mother with apparently balanced translocation between chromosomes 4 and 22 gave birth to two children (sib 1 and twin A) with 45,XX,der(4)t(4;22) (p16.3;q11.2)mat,-22 and 45,XY,der(4)t(4; 22(p16.3;q11.2)mat,-22 karyotypes. The mother was a slow learner and required special education. The imbalance in the sibs arose through a 3:1 malsegregation in the mother. The net result was deletions 4p16....
متن کاملTranslocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability.
PURPOSE The families experienced by occurrence of child with Wolf-Hirschhorn syndrome (WHS: OMIM # 194190) and by other unfavourable pregnancy outcomes (miscarriages or stillbirths/early deaths and partial trisomy 4p imbalance leading to intellectual disability in live born progeny) are asking for genetic counseling. In order to obtain the recurrence probability rates for the particular forms o...
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...
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ورودعنوان ژورنال:
- American journal of medical genetics. Part A
دوره 152A 1 شماره
صفحات -
تاریخ انتشار 2010