Clinical Features and Short-Term Growth Hormone Outcomes in Maternal UPD of Chromosome 20: Five Chinese Patients and a Literature Review.

Case Report: Concurrent maternal uniparental disomy-type Prader-Willi syndrome and X-linked G6PD deficiency—an area of focus on multi-gene screening for imprinting disorders

Prader-Willi syndrome (PWS) is a rare imprinting disorder caused by functional impairment of imprinted genes within the paternal 15q11.2-q13 region. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disorder. Cases describing the coexistence of maternal uniparental disomy (UPD)-type PWS...

Endocrinología, Diabetes y Nutrición

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype–phenotype correlations and clinical implications

Pubertal delay in patients with paternally derived 15q11.2-q13 duplication syndrome and MKRN3 overexpression.

A de novo 1.62 Mb deletion at 2q34 with nonpenetrant neurodevelopmental phenotype at 12 months.

A de novo 1.62 Mb 2q34 deletion diagnosed prenatally with a favorable short-term neurodevelopmental outcome is reported, providing a counter example to the established pathogenic view and highlighting the complexity of genotype-phenotype correlation for ERBB4 haploinsufficiency.

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study

The 6-year longitudinal follow-up of ILS in a Chinese patient with severe developmental delay confirmed that haploinsufficiency of the PAFAH1B1 gene was the primary pathogenic cause and expanded the phenotypic spectrum of ILS in Chinese populations.