The spectrum of the Prader–Willi-like pheno-and genotype: a review of the literature
AF Juriaans, GF Kerkhof… - Endocrine …, 2022 - academic.oup.com
Prader–Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression
of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients …
of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients …
Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism
E Greco, P Yakovlev, N Kornilov, S Vyatkina… - Human …, 2023 - academic.oup.com
The health risks associated with transferring embryos classified as mosaic by
preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such …
preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such …
[PDF][PDF] Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes
CF Rocha, RB Vasques, SR Santos, CLA Paiva - Genet Mol Res, 2016 - academia.edu
The major clinical features of monosomy 1p36 deletion are developmental delay and
hypotonia associated with short stature and craniofacial dysmorphisms. The objective of this …
hypotonia associated with short stature and craniofacial dysmorphisms. The objective of this …
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
S Shimada, K Shimojima, N Okamoto, N Sangu… - Brain and …, 2015 - Elsevier
Objective Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion
syndrome. Patients with this syndrome typically have common clinical features, such as …
syndrome. Patients with this syndrome typically have common clinical features, such as …
Mosaic Williams syndrome: A case report
S Kalantari, MD Biagio, EM Valente… - American Journal of …, 2023 - Wiley Online Library
Williams syndrome (WS) is a well‐known genetic disorder caused by heterozygous
microdeletions of the 7q11. 23 chromosome region. The main clinical features of the …
microdeletions of the 7q11. 23 chromosome region. The main clinical features of the …
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
A Dos Santos, F Campagnari, ACV Krepischi… - Chromosome …, 2018 - Springer
A complex mosaicism of the short arm of chromosome 1 detected by SNP microarray
analysis is described in a patient presenting a 4-Mb 1p36 terminal deletion and associated …
analysis is described in a patient presenting a 4-Mb 1p36 terminal deletion and associated …
[PDF][PDF] Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
N Okamoto, S Mizuno, T Kumada, T Yamamoto - Citeseer
Objective: Monosomy 1p36 syndrome is the most commonly observed subtelomeric deletion
syndrome. Patients with this syndrome typically have common clinical features, such as …
syndrome. Patients with this syndrome typically have common clinical features, such as …