Molecular cytogenetic study of patients with Pallister-Killian syndrome
نویسندگان
چکیده
منابع مشابه
Pallister-Killian syndrome
PATIENT Male, 0 FINAL DIAGNOSIS: Pallister-Killian syndrome Symptoms: Decidious tooth • flattened nasal bridge • frontal bossing • grooved palate • low-set ears • mid-facial hypoplasia • nuchal fold thickening • right inquinal testis • shortened upper extremities • undescended left intraabdominal testis • widely spaced nipples MEDICATION - Clinical Procedure: - Specialty: Pediatrics and Neona...
متن کاملTetrasomy 12p (Pallister-Killian syndrome).
First described in 1977 by Pallister et all and independently reported in 1981 by Killian and Teschler-Nicola,2 the syndrome is known for its many anomalies and by various names including Pallistermosaic syndrome, Pallister-Killian syndrome, Pallister-Killian-Teschler-Nicola syndrome, KillianTeschler-Nicola syndrome, and others. Some early cases were misinterpreted as mosaic tetrasomy 21q q. It...
متن کاملCardiac manifestations of Pallister-Killian syndrome.
Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. Although congenital heart defects have been described in...
متن کاملPallister-Killian syndrome: historical perspective and foreword.
There have been quite some changes since I first became aware of genetics. In high school biology in 1938 we were taught that there were 48 human chromosomes just as we were at the University of Minnesota from 1938 to 1944. But in other parts of the world human chromosomes had been of interest for some time. Lionel Sharples Penrose and coworkers worked at the Royal Eastern Counties Institute fo...
متن کاملSeizure characteristics in Pallister-Killian syndrome.
Pallister-Killian syndrome (PKS) is a congenital disorder attributed to supernumerary isochromosome 12p mosaicism. Craniofacial dysmorphism, learning impairment and seizures are considered cardinal features. However, little is known regarding the seizure and epilepsy patterns in PKS. To better define the prevalence and spectrum of seizures in PKS, we studied 51 patients (39 male, 12 female; med...
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: Human Genetics
سال: 1993
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00222711