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
INTRODUCTIONPartial duplication of the short arm of chromosome 7 was recognized as a known clinical entity and referred to as the duplication 7p syndrome (10). It commonly results from malsegregation of a parental balanced translocation or via abnormal...
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES
INTRODUCTION13q 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 and motor retardation, craniofacial dysmorphia, growth retardation,...
A Novel Mutation in Npr2 Gene in a Patient with Acromesomelic Dysplasia, Maroteaux Type
INTRODUCTIONAcromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease from the group of acromesomelic dysplasias with an approximate prevalence of 1/1.000.000. It is characterized by severe dwarfism accompanied by shortness...
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)
INTRODUCTIONThe 6p24 deletion syndrome (OMIM # 6125826), is a contiguous gene deletion syndrome characterized by a wide spectrum of clinical presentations (2, 4, 7, 8, 10). Forkhead box protein Cl gene (FOXC1/ FKHL7), encoding a member of the winged...
Co-Occurrence of Neural Tube Defect, Thoracal Defect and Omphalocele: A Rare Case and Review of the Literature
Craniorachischisis 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 environmental factors...
Cunical Variability in Two Sisters with Keutel Syndrome Due to a Homozygous Mutation in Mgp Gene
INTRODUCTIONIn 1972, Keutel et al. (7) described two sibs with peripheral pulmonary stenosis, calcification of the cartilage in the external ears, larynx, trachea and ribs, short terminal phalanges and sensorineural hearing loss. Say et al. (14) also...
Detecting Porcn Microdeletions in a Large Family with Focal Dermal Hypoplasia
INTRODUCTIONFocal dermal hypoplasia (FDH, MIM# 305600) is an X-linked dominant disease with in utero lethality in males. It is a multisystem disorder characterized primarily by the involvement of the skin, skeletal system, eyes, and face (1,2). The high...
Inflammatory Bowel Disease-Like Phenotype in a Young Girl with Prolidase Deficiency: A New Spectrum of Clinical Manifestation
INTRODUCTIONInflammatory bowel disease (IBD) represents a heterogeneous group of conditions with different types of disease severity, localization and response to therapy. Diagnosis of IBD can be challenging, because classical symptoms including pain,...
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
INTRODUCTIONMegalencephalic leukoencephalopathy with subcortical cysts (MLC) (as known Van der Knaap diseases) is a rare disease first described by van der Knaap et al., in 1995 (7). It is an autosomal recessive disease (2). MLC is characterized by infantile...
MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM
INTRODUCTIONThe partial duplication of the long arm of chromosome 1 is a rare chromosomal pathology. De novo pure interstitial duplication lq is also scarce within these entities (1). Duplication occurs due to balanced segregation of the parental translocation...
Molar Tooth Sign and Acrocallosal Syndrome - a Report on a Polish Family and Review of Kif7 Syndromology
INTRODUCTIONAcrocallosal syndrome (ACLS, MIM 200990) is a multiple congenital anomaly disorder characterized by acral malformations (postaxial and/ or preaxial polydactyly or hallux duplication, cutaneous syndactyly), absence or hypoplasia of the corpus...
MULTIPLE CONGENITAL ANOMALIES IN A CHILD WITH 47,xy,+der(8;9)(p10;p10): A CASE REPORT
INTRODUCTIONSmall supernumerary marker chromosomes (sSMCs) are anormally extrachromosomal structures with sizes equal to or smaller than chromosome 20 in the same metaphases. Due to their small size they cannot be characterized by conventional cytogenetic...
NOVEL MUTATION OF THE ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE (ETFDH) GENE IN THE ISOLATED MYOPATHIC FORM OF COENZYME Q10 DEFICIENCY
Coenzyme 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 heterogeneous clinical...
PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13)
INTRODUCTIONPericentric inversion is a chromosomal rearrangement in which the breakpoints occur on both arms of a chromosome resulting an inverted segment spans the centromere. Pericentric inversions of chromosome 2 are common, accounting for 14% of...
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
INTRODUCTIONPompe disease is a rare autosomal recessive disease in which a deficiency in acid a-glucosidase (GAA) activity leads to glycogen accumulation in the lysosomes. Progressive muscle damage and organ failure follow (3). Several phenotypes can...
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....
Search by... Author
Show... All Results Primary Sources Peer-reviewed

Oops!

An unknown error has occurred. Please click the button below to reload the page. If the problem persists, please try again in a little while.