Genetic Counseling

Articles from Vol. 23, No. 3, 2012

A Case of Onycotricodysplasia with Intellectual Disability, without Neutropenia
Summary: A case of onycolricodysplasia with intellectual disability, without neutropenia: Onychotrichodysplasia, a rare autosomal recessive disorder, presents with hypoplastic fingernails, trichorrhexis, chronic neutropenia, and psychomotor retardation....
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A Four-Vessel Umbilical Cord with Omphalomesenteric Duct in Trisomy 18
A 22-year-old healthy Turkish woman (gravida 3, para 3) was admitted to the maternity ward for the evaluation of multiple fetal anomalies detected at 32 weeks and 3 days of gestation. The pregnancy had been otherwise uncomplicated. The mother was not...
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Angelman Syndrome and Thyroid Dysfunction
Summary: Angelman syndrome and thyroid dysfunction: Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1 : 1 0,000 to 1 :40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular...
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A Preterm Infant with Prolonged Respiratory Problems Due to Ritscher-Schinzel Syndrome
Summary: A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome: Ritscher-Schinzel also known as cranio-cerebello-cardiac (3C) syndrome is a very rare clinical entity. The striking features of this syndrome are cerebellar,...
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C.428_451 Dup(24bp) MUTATION OF THE ARX GENE DETECTED IN A TURKISH FAMILY
Summary: c.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family: ARX mutations give rise to both syndromic and nonsyndromic forms of mental retardation (MR). We investigated the most common ARX mutations, c.428_451 dup(24bp) and c.333ins...
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CONCURRENCE OF Inv(7)(q11.2q32) AND Del(8)(p23.1) IN A GIRL WITH CONGENITAL MICROCEPHALY, HYPOTONIA, DEVELOPMENTAL DELAY, STRABISMUS, HYPERNATREMIA, HYPERMAGNESEMIA AND DEAFNESS
Summary: Concurrence ofinv(7)(qll.2q32) and del(8)(p23. 1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness: The clinical manifestations and cytogenetic details of a de novo...
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Congenital Mirror Hand Deformity
Summary: Congenital mirror hand deformity: Ulnar dimelia or commonly called mirror hand is a rare congenital anomaly of upper extremity characterized by duplication of ulna, absence of the radius with symmetrical Polydactyly. This anomaly may be associated...
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Identification of a Missense Mutation of C.3064g>a, Gly1022ser in Exon 43 of Col1a1 Gene in a Girl with Osteogenesis Imperfecta Type III
Summary: Identification of a missense mutation ofc.3064G>A, Glyl022Ser in exon 43 of COLI Al gene in a girl with osteogenesis imperfecta type III: Osteogenesis imperfecta (OI) types I - V have been inherited in an autosomal dominant pattern. 01 type...
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In Search of the Diagnosis, and the Patient: Transient Galactosemia Demystified after 14 Years
Summary: In search of the diagnosis, and the patient: transient galactosemia demystified after 14 years: Infantile galactosemia can be caused by inborn errors of galactose metabolism or other rare causes like Fanconi-Bickel syndrome, congenital porto-systemic...
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PARTIAL MONOSOMY 3p (3P26.2[arrow Right]pter) AND PARTIAL TRISOMY 5q (5Q34[arrow Right]qter) IN A GIRL WITH COARCTATION OF THE AORTA, CONGENITAL HEART DEFECTS, SHORT STATURE, MICROCEPHALY AND DEVELOPMENTAL DELAY
Summary: Partial monosomy 3p (3p26.2[arrow right]pter) and partial trisomy 5q (5q34[arrow right] qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay: A 1-year-and-3-month-old girl...
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PARTIAL TRISOMIES OF 8q AND 15q DUE TO MATERNAL BALANCED TRANSLOCATIONS
Summary: Partial trisomies of 8q and 15q due to maternal balanced translocations: Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare events. We present two different cases with unbalanced chromosomal rearrangements...
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Pontocerebellar Hypoplasia Associated with Nevoid Hyperpigmentation and Dysmorphic Findings: A New Subtype?
Summary: A case of pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype ? Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders characterized...
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Severe Semilobar Holoprosencephaly and Lissencephaly Associated with Cebocephaly in a Newborn
Summary: Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn: Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly. Cebocephaly...
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Short Stature, Renal and Thumb Agenesis Associated with Situs Inversus Totalis: A Case Report
Summary: Short stature, renal and thumb agenesis associated with situs inversus totalis: a case report: Situs inversus is a laterality disorder of the internal organs, which create a mirror image of the normal morphology, and are associated with cardiovascular,...
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