Τίτλος:
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10-year-old boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyly, hypertelorism, epicanthus, mild systolic murmur and kidney reflux). The second patient was a 3 year-old girl with developmental delay, gross motor milestone delay and dysmorphic features. Array-comparative genomic hybridization analysis revealed that partial chromosome 8p monosomy extended from 8p23.2 to 8pter (4.8 Mb) in Patient 1 and from 8p23.1 to 8pter (9.5 Mb) in Patient 2, and partial chromosome 16 trisomy extended from 16q23.3 to 16qter (5.6 Mb) in Patient 1 and from 16q23.1 to 16qter (11.7 Mb) in Patient 2. The mechanism of appearance of the rearrangement in association with the genes involved and the architecture of the region is discussed.
Συγγραφείς:
Papadopoulou, Z.
Papoulidis, I.
Sifakis, S.
Markopoulos, G.
Vetro, A.
Vlaikou, A.-M.
Ziegler, M.
Liehr, T.
Thomaidis, L.
Zuffardi, O.
Syrrou, M.
George, K.
Manolakos, E.
Περιοδικό:
Molecular Medicine Reports
Εκδότης:
Spandidos Publications
Λέξεις-κλειδιά:
AGPAT5 protein; ANGPT2 protein; ARHGEF10 protein; ATP2C2 protein; CLDN23 protein; CLN8 protein; COTL1 protein; CRISPLD2 protein; CSMD1 protein; DEFA1 protein; DEFA3 protein; DEFA4 protein; DEFA5 protein; DEFA6 protein; DEFB1 protein; DEFB103B protein; DEFB4A protein; DLGAP2 protein; ERI1 protein; FAM90A10P protein; FAM90A7P protein; FBX025 protein; MCPH1 protein; MFHAS1 protein; MYOM2 protein; PPP1R3B protein; protein; SPAG11B protein; tankyrase; unclassified drug; USP10 protein; microsatellite DNA, Article; bioinformatics; borderline microcephaly; case report; child; childhood disease; chromosome 16; chromosome 8p; clinical article; clinodactyly; comparative genomic hybridization; copy number variation; developmental delay; epicanthus; eyelid disease; female; fluorescence in situ hybridization; gene deletion; gene duplication; human; hypertelorism; karyotype; kidney disease; kidney reflux; male; microcephaly; muscle hypotonia; partial monosomy; partial monosomy 8p; phenotype; prenatal diagnosis; preschool child; school child; systolic heart murmur; trisomy 16; trisomy 16q; biology; chromosome 8; chromosome deletion; developmental disorder; echocardiography; gene dosage; genetic association study; genetic variation; genetics; multiple malformation syndrome; procedures; trisomy, Abnormalities, Multiple; Child; Chromosome Deletion; Chromosomes, Human, Pair 16; Chromosomes, Human, Pair 8; Comparative Genomic Hybridization; Computational Biology; Developmental Disabilities; Echocardiography; Gene Dosage; Genetic Association Studies; Genetic Variation; Humans; Male; Microsatellite Repeats; Phenotype; Trisomy
DOI:
10.3892/mmr.2017.7760
