Paediatria Croatica, Vol. 57 No. 1, 2013.
Stručni rad
MICRODELETION 17q21.31: TWO CASE REPORTS
Ljubica Odak
; Klinika za pedijatriju Klinike za dječje bolesti Zagreb, Klaićeva 16, Zagreb
Leona Morožin Pohovski
; Klinika za pedijatriju Klinike za dječje bolesti Zagreb, Klaićeva 16, Zagreb
Ingeborg Barišić
; Klinika za pedijatriju Klinike za dječje bolesti Zagreb, Klaićeva 16, Zagreb
Sažetak
Microdeletion 17q21.31 is a rare chromosomal disorder characterized by developmental delay/intellectual disability, neonatal/childhood hypotonia, dysmorphisms, and characteristic behavioural phenotype. Additional anomalies of the heart, skeletal, urogenital and central nervous system can be present. This report presents two children - a girl at the age of 15 years and a 3-month old male infant with microdeletion 17q21.31. Multiple ligation probe amplification (MLPA) method using SALSA 245 and SALSA 371 probes showed microdeletion 17q21.31 that includes KANSL1 CRHR1 i MAPT genes in both patients. The disorder is a part of the KANSL1-related intellectual disability syndrome that could be caused by microdeletion 17q21.31 or a heterozygous intragenic mutation in KANSL1gene. It is inherited in an autosomal dominant manner, but almost all cases result from a de novo mutation.
Ključne riječi
Descriptors: CHROMOSOMES, HUMAN, PAIR 17; DEVELOPMENTAL DISABILITIES - genetics; MOLECULAR BIOLOGY; INFANT; ADOLESCENTS
Hrčak ID:
99168
URI
Datum izdavanja:
15.2.2013.
Posjeta: 896 *