While 9p deletion and duplication syndromes have been studied for several years, small
sample sizes and minimal high-resolution data have limited a comprehensive delineation of …

Background Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or
complete deletion of the short arm of chromosome 5 (5p‐). The main clinical features include …

Introduction: Cri-du-chat syndrome is generally diagnosed when patients present a high-
pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The …

BACKGROUND Balanced translocation refers to the process where breakage and
reconnection of chromosomes occur at abnormal positions. As the genetic substance with …

Uvod: Urođene srčane mane (USM) predstavljaju strukturne abnormalnosti srca i velikih
krvnih sudova prisutne na rođenju. Sa učestalošću od 0, 8-1, 2% u populaciji novorođenih …

Introduction: Cri-du-chat syndrome is generally diagnosed when patients present a high-
pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The …

We report two sisters with developmental delay and dysmorphic features, as well as a
history of seizures. Both sisters have short stature, microcephaly and shared facial …

Conclusão Portanto, a análise citogenética/heredograma identificou a translocação
balanceada familiar, permitindo melhor entendimento da etiopatologia além de centrado …

Zaostajanje u razvoju i intelektualne poteškoće se u opštoj populaciji sreću sa učestalošću
od 1-3% i predstavljaju najčešću indikaciju za upućivanje deteta kliničkom genetičaru. Mogu …

Uvod: Zaostajanje u razvoju i intelektualne poteškoće se u opštoj populaciji sreću sa
učestalošću od 1-3% i predstavljaju najčešću indikaciju za upućivanje deteta kliničkom …