2.A case of Angelman syndrome combined with oculocutaneous albinism.
Chinese Journal of Pediatrics 2005;43(8):635-636
Albinism, Oculocutaneous
;
complications
;
diagnosis
;
genetics
;
Angelman Syndrome
;
complications
;
diagnosis
;
genetics
;
Child
;
Chromosomes, Human, Pair 15
;
Developmental Disabilities
;
etiology
;
genetics
;
Epilepsy
;
etiology
;
genetics
;
Female
;
Humans
;
Intellectual Disability
;
etiology
;
genetics
;
Karyotyping
3.Psychomotor retardation with neutropenia for more than one year in a toddler.
Fan ZHANG ; Xiu-Yu SHI ; Li-Ying LIU ; Yu-Tian LIU ; Li-Ping ZOU
Chinese Journal of Contemporary Pediatrics 2018;20(6):497-500
A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Base Sequence
;
Developmental Disabilities
;
diagnosis
;
genetics
;
Fingers
;
abnormalities
;
Humans
;
Infant
;
Intellectual Disability
;
diagnosis
;
genetics
;
Male
;
Microcephaly
;
diagnosis
;
genetics
;
Muscle Hypotonia
;
diagnosis
;
genetics
;
Mutation
;
Myopia
;
diagnosis
;
genetics
;
Neutropenia
;
complications
;
genetics
;
psychology
;
Obesity
;
diagnosis
;
genetics
;
Psychomotor Disorders
;
diagnosis
;
etiology
;
genetics
;
Retinal Degeneration
;
diagnosis
;
genetics
;
Vesicular Transport Proteins
;
genetics
4.Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome.
Cha Gon LEE ; Sang Jin PARK ; Jun No YUN ; Shin Young YIM ; Young Bae SOHN
Journal of Korean Medical Science 2012;27(12):1586-1590
Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Patient 1 (Smith-Magenis syndrome) was a 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, and developmental delay. Patient 2 (Potocki-Lupski syndrome), a 17-yr-old boy, had only intellectual disabilities and language developmental delay. We used array comparative genomic hybridization (array CGH) and found a 2.6 Mb-sized deletion and a reciprocal 2.1 Mb-sized duplication involving the 17p11.2. These regions overlapped in a 2.1 Mb size containing 11 common genes, including RAI1 and SREBF.
Adolescent
;
Asian Continental Ancestry Group/*genetics
;
Child, Preschool
;
*Chromosomes, Human, Pair 17
;
Comparative Genomic Hybridization
;
Developmental Disabilities/etiology/genetics
;
Gene Deletion
;
Gene Duplication
;
Humans
;
Intellectual Disability/etiology/genetics
;
Karyotyping
;
Male
;
Smith-Magenis Syndrome/diagnosis/*genetics
;
Sterol Regulatory Element Binding Protein 1/genetics
;
Transcription Factors/genetics