From karyotypes to precision genomics in 9p deletion and duplication syndromes
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 …
sample sizes and minimal high-resolution data have limited a comprehensive delineation of …
Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p–syndrome
Y Luan, P Li, Y Luo, H Zhang, X Zhu, Y Zhang, A Yin… - Heliyon, 2025 - cell.com
Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results
from partial deletions on the short arm of chromosome 5, known as 5p minus. Substantial …
from partial deletions on the short arm of chromosome 5, known as 5p minus. Substantial …
From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome
Genetic syndromes have been studied by extensive research allowing a better definition of
their clinical manifestations, natural history, and etiopathogenetic mechanisms …
their clinical manifestations, natural history, and etiopathogenetic mechanisms …
Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p-syndrome
SN Chehimi, VT Almeida, AM Nascimento, ÉA Zanardo… - Clinics, 2022 - SciELO Brasil
Abstract Objectives Copy Number Variations (CNVs) in the human genome account for
common populational variations but can also be responsible for genetic syndromes …
common populational variations but can also be responsible for genetic syndromes …
Deep phenotyping and genetic characterization of a cohort of 70 individuals with 5p minus syndrome
J Nevado, C Bel-Fenellós… - Frontiers in …, 2021 - frontiersin.org
Chromosome-5p minus syndrome (5p-Sd, OMIM# 123450) formerly known as Cri du Chat
syndrome results from the loss of genetic material at the distal region of the short arm of …
syndrome results from the loss of genetic material at the distal region of the short arm of …
Cri-du-chat syndrome: revealing a familial atypical deletion in 5p
VT Almeida, SN Chehimi, Y Gasparini… - Molecular …, 2022 - karger.com
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 …
pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The …
[PDF][PDF] Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry
C Freitas, P Rendeiro, MJ Costa - Nascer e Crescer, 2023 - revistas.rcaap.pt
Cri-du-chat syndrome is a rare disorder caused by a deletion of part of the short arm of
chromosome 5. It is characterized by the presence of clinical features at birth, namely cat …
chromosome 5. It is characterized by the presence of clinical features at birth, namely cat …
Pequena deleção na região crítica da síndrome de Cri-du-chat associada a choro de gato
C Freitas, P Rendeiro, MJ Costa - NASCER E CRESCER-BIRTH …, 2023 - revistas.rcaap.pt
Cri-du-chat syndrome is a rare disorder caused by a deletion of part of the short arm of
chromosome 5. It is characterized by the presence of clinical features at birth, namely cat …
chromosome 5. It is characterized by the presence of clinical features at birth, namely cat …
Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p
VTASN Chehimia, Y Gasparinia, AMNGFS Carvalhoa… - 2022 - karger.com
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 …
pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The …