Genetic Counseling

Articles from Vol. 27, No. 1, 2016

22.5 MB DELETION OF 13q31.1-Q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS
INTRODUCTION13q deletion syndrome, partial deletion of the long arm of the chromosome 13, is a rare but well defined chromosomal abnormality. It was first reported by Leie et al. in a patient with retinoblastoma (12), and later described as a specific...
ABSTRACTS OF THE 26TH EUROPEAN MEETING ON DYSMORPHOLOGY 9-11 September 2015 - le Bischenberg, Strasbourg, France
FORMAL UNKNOWNA. PEREZ-AWES AND M. REINADysmorphology and Reproductive Genetics Unit. University Hospital La Fe. Valencia, Spain.E-mail for correspondence: aperezaytesíágmail.comC.D.S. is a 5-year-old boy. Mother 36 year old; father 36 year old, non-consanguineous...
A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS
INTRODUCTIONIt is well known that subtelomeric regions of chromosomes are relatively gene-rich regions. Therefore, deletions of these regions are one of the most important causes of mental retardation and multiple congenital malformations (16). Some...
A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOMPASSING THE 11q14.1-Q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES
INTRODUCTIONTerminal deletions of the long arm of chromosome 11 have been reported in the literature to be associated with the well-described Jacobsen syndrome. Indeed, to date, more than 200 cases with such an association have been reported. The prevalence...
A Rare Combination of 45,x/46,xy Mosaicism and Y Chromosome Microdeletion in an Infertile Man with Azoospermia
Infertility is observed 15% of married couples. It has been shown that almost 30-50% of the infertility is originating from male (4,6). One of the major reasons for male infertility is chromosomal abnormalities, which varies between 2% and 88% in literature,...
Axillary Artery Thrombosis in a Newborn Homozygous for Methylenetetrahydrofolate Reductase (A1298c) Mutation and Heterozygous for Factor V Leiden (G506a) Mutation
Neonatal axillary artery thrombosis is usually secondary to arterial vascular access (6,8). Herein we present the case of a near-term infant noted to have marked left upper limb swelling and cyanosis at birth. A female infant weighing 2880 g was bom...
Clinical Features and Genetic Analysis of Six Patients with Wiskott-Aldrich Syndrome Reporting Two Novel Mutations: Experience of Erciyes University, Kayseri, Turkey
INTRODUCTIONWiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disease (OMIM#301000) characterized by thrombocytopenia with small platelets, eczema and recurrent infections, susceptibility to autoimmune diseases, and malignancies...
Co-Occurrence of Primary Microcephaly Caused by a Novel Homozygous Aspm Mutation along with X-Linked Ichthyosis in the Same Patient
INTRODUCTIONMicrocephaly is defined as the occipito-frontal circumference (OFC) is 3 SD below the mean of the same age, sex and race (23). It has been described in many forms. It could be an isolated or synonymous primary microcephaly when there are...
HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE
Hypophosphatasia is a rare disorder characterized by deficiency of serum and tissue alkaline phosphatase activity with defective bone mineralization, was first described by Ratbun in 1948 (3). The disease is the result of mutations in the liver/bone/kidney...
Oculoectodermal Syndrome: A New Case with Giant Cell Granulomas and Non-Ossifying Fibromas
INTRODUCTIONThe oculoectodermal syndrome (OES, OMIM 600268) was first described by Toriello et al. in two patients with aplasia cutis congenita, epibulbar dermoid and areas of hyperpigmentation on the skin (13). One of these patients developed a recurrent...
Partial Oculocutaneous Albinism and Immunodeficiency Syndromes: Ten Years Experience from a Single Center in Turkey
INTRODUCTIONPartial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases encompass several genetic syndromes characterized by partial hypopigmentation and immunological defects (5). These include Griscelli Syndrome type 2 (GS2), Chediak-Higashi...
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW
INTRODUCTION:Partial trisomy 4p is a rare chromosomal abnormality. It is associated with a variety of distinct phenotypes depending on the length and location of the duplicated portion of chromosome 4p. Most of the cases are derived from familial chromosomal...
Y-Chromosome De Novo Recombinants. Implications for Nomenclature
In our report on a de novo rea (21) in this journal (3), we characterize this and other similar composites as recombinant-like chromosomes because their segmental composition is akin to that of a classical recombinant resulting from a meiotic crossing-over...
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