[HTML][HTML] Phenotype of a patient with a 1p36. 11-p35. 3 interstitial deletion encompassing the AHDC1

HY Park, M Kim, W Jang… - Annals of laboratory …, 2017 - synapse.koreamed.org
Dear Editor, 1p36 deletion syndrome is the most common terminal chromosomal deletion in
humans, affecting 1 in 5,000 newborns [1-3]. Common clinical features include …

[PDF][PDF] Deletion of 20p13 and Duplication of 20p13p12. 3 in a Patient with Delayed Speech and Development

SS Kwon, J Kim, S Shin, ST Lee… - Annals of laboratory …, 2018 - synapse.koreamed.org
Dear Editor, Few cases involving deletions and duplications of the short arm of chromosome
20 have been reported; these patients present various phenotypes, including developmental …

[引用][C] Minimal genotype–phenotype correlation for small deletions within distal 1p36

A Buck, C du Souich… - American Journal of …, 2011 - Wiley Online Library
The proposita is the first child of healthy nonconsanguineous Korean parents. She has a
healthy younger brother. Her gestation was complicated by maternal gestational diabetes …

[引用][C] Interstitial deletion of 17pl 1.2 with brain abnormalities

M Masuno, J Asano, M Arai, T Kuwahara… - Clinical genetics, 1992 - Wiley Online Library
Over 30 patients have been documented with interstitial deletion of the short arm of
chromosome 17. The deleted segments consistently involve the band pll. 2 (Patil & Bartley …

Delineating the phenotype of 1p36 deletion in adolescents and adults

A Brazil, K Stanford, T Smolarek… - American Journal of …, 2014 - Wiley Online Library
1p36 deletion is the most common telomeric deletion syndrome, with an incidence of
1/5,000–1/10,000. A variety of clinical complications have been reported including seizures …

[PDF][PDF] An 18.3-Mb duplication on chromosome 14q with multiple cardiac anomalies and clubfoot was identified by microarray analysis

JG Yoon, S Shin, JW Jung, ST Lee… - Annals of Laboratory …, 2016 - synapse.koreamed.org
Dear Editor, Abnormalities involving the proximal segment of the long arm of chromosome
14 (14q) are rare. Clinical phenotypes of duplications on 14q vary, with autistic disorder …

Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome

S Shimada, Y Maegaki, M Osawa… - American Journal of …, 2014 - Wiley Online Library
We identified mosaic 1p36 deletions in two patients with developmental delay, distinctive
features, and obesity, who can walk alone and communicate with others. Thus, their …

Identification of proximal 1p36 deletions using array‐CGH: A possible new syndrome

SHL Kang, A Scheffer, Z Ou, J Li, F Scaglia… - Clinical …, 2007 - Wiley Online Library
Monosomy 1p36 is the most common terminal deletion syndrome with an estimated
occurrence of 1: 5000 live births. Typically, the deletions span< 10 Mb of 1pter‐1p36. 23 and …

Deletion of 3p25. 3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region

G Kellogg, J Sum, R Wallerstein - American journal of medical …, 2013 - Wiley Online Library
Several recent reports of interstitial deletions at the terminal end of the short arm of
chromosome 3 have helped to define the critical region whose deletion causes 3p deletion …

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

A Battaglia, HE Hoyme, B Dallapiccola, E Zackai… - …, 2008 - publications.aap.org
OBJECTIVES. Deletion 1p36 syndrome is a recently delineated disorder, considered to be
the most common subtelomeric microdeletion syndrome (1 in 5000 newborns). 1p36. 3 …