Genetic Counseling

Articles from Vol. 26, No. 2, 2015

A FEMALE PATIENT WITH DUPLICATION OF 7p13-Pter ASSOCIATED WITH DEL 20p13-Pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION
Summary: A female patient with duplication oflpli-pter associated with del 20pI3-pter resultingfrom malsegregated paternal 7;20 balanced translocation: Duplication of the short arm of chromosome 7 is a genomic disorder presenting with distinctive facies...
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES
Summary: A new observation of I3q deletion syndrome: severe undescribed features: 13q deletion syndrome is characterized by a wide phenotypic spectrum resulting from a partial deletion of the long arm of chromosome 13. It consists predominantly of mental...
A Novel Mutation in Npr2 Gene in a Patient with Acromesomelic Dysplasia, Maroteaux Type
Summary: A novel mutation in NPR2 gene in a patient with acromesomelic dysplasia, Maroteaux type: Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements,...
A Trisomy 13 Case Presenting with Congenital Diaphragmatic Hernia and Microphthalmia
Trisomy 13 is a lethal disease affecting multiple organ systems (7). On the other hand, congenital diaphragmatic hernia (CDH) is a relatively common birth defect and is related to high mortality and morbidity (4). About 10% of all individuals with CDH...
A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582)
Summary: A variant case of 6p24 deletion syndrome (OMIM #612582): The 6p24 deletion syndrome, a contiguous gene deletion syndrome is characterized by a wide spectrum of clinical presentations. In this case report we present an antenatal case of 6p 24...
Co-Occurrence of Neural Tube Defect, Thoracal Defect and Omphalocele: A Rare Case and Review of the Literature
LETTER TO THE EDITORCraniorachischisis and anencephaly are serious type of Neural tube defects (NTD), are the opening of almost all the neural tube starting from the brain until the lower spine. NTDs occur because of the interaction of many genes and...
Cunical Variability in Two Sisters with Keutel Syndrome Due to a Homozygous Mutation in Mgp Gene
Summary: Clinical variability in two sisters with Keutel syndrome due to a homozygous mutation in MGP gene: Keutel syndrome (KS) is an autosomal recessive disease characterised by abnormal cartilage calcification, brachytelephalangism, peripheral pulmonary...
Detecting Porcn Microdeletions in a Large Family with Focal Dermal Hypoplasia
Summary: Detecting PORCN microdeietions in a large family with focal dermal hypoplasia: Focal dermal hypoplasia (FDH), an X-linked dominant disease with a highly variable phenotype, presents mainly with congenital linear pigmentation of the skin, herniation...
Inflammatory Bowel Disease-Like Phenotype in a Young Girl with Prolidase Deficiency: A New Spectrum of Clinical Manifestation
Summary: Inflammatory bowel disease-like phenotype in a young girl with prolidase deficiency: a new spectrum of clinical manifestation: Prolidase deficiency (PD) is an inherited disorder associated with cutaneous ulcers, intellectual disability, unusual...
LARYNGEAL WEB ASSOCIATED WITH CHROMOSOME 22q11 DELETION IN A PRETERM INFANT
The laryngeal web is a rare congenital anomaly resulting from an incomplete recanalization of the primitive larynx and should be suspected in any newborn with dysphonie cry with or without stridor and respiratory distress. The diagnosis is confirmed...
Megalencephalic Leukoencephalopathy with Subcortical Cysts with Homozygous Mutation (C.448delc, P.leu150 Ser Fsx11) on Exon 6 of Mlc1 Gene
Summary: Megalencephalic leukoencephalopathy with subcortical cysts with homozygous mutation (c.448delc. p. Ieul50 ser fsxll) on exon 6 of MLC! gene: MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter...
MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM
Summary: Microarray delineation of de novo duplication 1q32q42 in a child showing multiple anomalies and dysmorphism: We present a 9 month-old baby girl with de novo pure interstitial duplication 1q. The girl has dysmorphic craniofacial features as well...
Molar Tooth Sign and Acrocallosal Syndrome - a Report on a Polish Family and Review of Kif7 Syndromology
Summary: Molar tooth sign and acrocallosal syndrome - a report on a Polish family and review ofKIF? syndromologv. Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly,...
MULTIPLE CONGENITAL ANOMALIES IN A CHILD WITH 47,xy,+der(8;9)(p10;p10): A CASE REPORT
Summary: Multiple congenital anomalies in a child with 47,XY,+der(8;9)(pI0;pl0): a case report: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material...
NOVEL MUTATION OF THE ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE (ETFDH) GENE IN THE ISOLATED MYOPATHIC FORM OF COENZYME Q10 DEFICIENCY
LETTER TO THE EDITORCoenzyme Q10 (CoQ 10 or ubiquinone) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions (8). CoQ 10 deficiency is thought to be an autosomal recessive condition. CoQ 10 deficiency is a...
PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13)
Summary: Prenatal diagnosis of de novo pericentric inversion inv(2)(pll.2ql3): We here report a prenatal case with de novo pericentric inversion inv(2)(pl I.2q13). A 20-years-old G1P0 woman was referred for amniocentesis at 17 weeks of gestation, because...
Prenatal Diagnosis of Isolated Scoliosis with Down Syndrome
Congenital scoliosis is caused by anomaly in formation or segmentation of vertebral elements, and ranges from benign scoliosis to malformations causing severe deformity. The component of the disease is attributed to abnormal development of the vertebrae...
Recurrence of Pompe Disease in First Cousins
Summary: Recurrence of Pompe disease infirst cousins: We report on the cases of two first-degree non-consanguineous cousins with infantile-onset Pompe disease, a rare autosomal recessive disease. The first patient developed cardiorespiratory failure...
The Spectrum of Clinical Features Associated with Klippel-Trenaunay-Weber Syndrome
The Klippel-Trenaunay-Weber Syndrome (KTS) is a rare syndrome with an uncertain origin and with an incidence of approximately 2-5:100.000 live births. It affects males more than females with most cases being sporadic and appearing at birth (9). It is...
TURNER SYNDROME WITH 45,x/46,x,i(xq)/47,x,i(xq),i(xq) KARYOTYPE
Turner Syndrome (Monosomy X) which is characterized by complete or partial absence of the X chromosome is seen in 1/2000 live female births. Retardation of pubertal development, primary amenorrhea, gonadal dysgenesis and short stature are the most important...
Uhl's Anomaly as a Part of Vacterl Association
In 1952, the almost complete absence of the myocardium in the right ventricle was described by Uhl (8). The right ventricle develops a parchment like appearance with associated diminution of function. This is an exceedingly rare congenital abnormality....
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