Down syndrome (DS) is one of the most frequent congenital birth defects, and the most
common genetic cause of mental retardation. In most cases, DS results from the presence of an …

Williams syndrome (WS) is a well-recognized neurodevelopmental disorder manifested by
both connective tissue and CNS abnormalities. The study depicts the 8-y experience and …

The end-organ resistance to androgens has been designated as Androgen Insensitivity
Syndrome (AIS), an X-linked disorder caused by mutations in the Androgen Receptor (AR) gene. …

We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …

An increased risk of different types of malignancy has been reported in patients with
Noonan syndrome (NS). We describe a patient with short stature, dysmorphic features, …

Aims: To describe the tall stature and its possible underlying mechanism in a Caucasian girl
(age 12 years and 10 months) with 46, XX (28%)/47, XXX (72%) mosaicism and to identify …

Sotos syndrome is characterized by tall stature, advanced bone age, typical facial
abnormalities, and developmental delay. The associated gene is NSD1. The study involved 22 …

A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal
or an abnormal Y chromosome is relatively common and is associated with a wide spectrum …

We describe an 18‐month‐old Greek boy with macrocephaly, partial gigantism of hands and
feet, hemihypertrophy, pigmented nevi, and other anomalies compatible with the Proteus …

Autism is a neurodevelopmental disorder characterized by clinical, etiologic, and genetic
heterogeneity. During the last decade, predisposing genes and genetic loci were under …