<abstract xmlns="http://www.w3.org/1999/xhtml"><p> We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient’s clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies</p></abstract>

We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient’s clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies

DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

Department of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania

Medical Genetics Center, “Sf. Maria” Children’s Hospital, Iaşi, Romania

Department of Endocrinology, ”Grigore T. Popa” University of Medicine and Pharmacy, Iaşi, Romania

Department of Neurology, CF Hospital, Iaşi, Romania

Balkan Journal of Medical Genetics

We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of...

DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

Pubblicato online: 11 mar 2014

Pagine: 67 - 72

DOI: https://doi.org/10.2478/bjmg-2013-0034

Parole chiave
18p - syndrome, Holoprosencephaly (HPE), Single nucleotide polymorphism (SNP) array, 16p11.2 duplication

This content is open access.

DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

Pubblicato online: 11 mar 2014

Pagine: 67 - 72

DOI: https://doi.org/10.2478/bjmg-2013-0034

Parole chiave18p - syndrome, Holoprosencephaly (HPE), Single nucleotide polymorphism (SNP) array, 16p11.2 duplication

This content is open access.

Parole chiave
18p - syndrome, Holoprosencephaly (HPE), Single nucleotide polymorphism (SNP) array, 16p11.2 duplication