BACKGROUND The presence of a congenital anomaly is associated with increased childhood cancer risk, likely due to large effects of Down syndrome and chromosomal anomalies for leukemia. Less is known about associations with presence of non-chromosomal anomalies. METHODS Records of children diagnosed with cancer at <20 years of age during 1984-2013 in Washington State cancer registries were lin...

Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysg...

A Wolf-Hirschhorn syndrome is a rare chromosomal anomaly, which results from deletion of the distal portion short arm chromosome 4 (4p-), diagnosis based on clinical picture, easily recognizable in children, confirmed by molecular cytogenetics. We report case baby with wolf-Hirschhorn revealed status epilepticus.

T HE MAY-HEGCLIN ANOMALY is a rare hereditary condition characterized by giant platelets and D#{246}hle inclusion bodies in the granulocytes. May first described the anomaly in 1909,’ and in 1945 Hegglin described the condition in a man and his two sons.2 Subsequent reports have confirmed the familial nature with an autosomal dominant mode of inheritance.3 3 Although most persons with the May-H...

We present a pair of dizygotic twins with different abnormal karyotypes. The chromosome anomaly is a sexual aneuploidy in both cases: 48,XXXXY in one, 47,XXY in the second. The origin of the chromosomal anomaly and the hypothetical relation between sexual aneuploidy and twinning is discussed. It is concluded that further studies in twins are necessary to prove the not yet solved problems of non...

Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neurons lining the walls of the cerebral ventricles. Mutations in FLNA account for 20-24% of instances but a majority have no identifiable genetic aetiology. Often the co-occurrence of PH with a chromosomal anomaly is used to infer a new locus for a Mendelian form of PH. This study reports four PH p...

amniocentesis is a known and accessible method for prenatal diagnosis. it is performed after the 15th week of gestation. in this method, about 20 ml of the amniotic fluid is aspirated and evaluated for biochemical tests, culture of amniocytes for karyotype, dna analysis and linkage tests based on indication. the objective of this study was to determine the indications, results and complications...

OBJECTIVE To assess the public health consequences of the rise in multiple births with respect to congenital anomalies. DESIGN Descriptive epidemiological analysis of data from population-based congenital anomaly registries. SETTING Fourteen European countries. POPULATION A total of 5.4 million births 1984-2007, of which 3% were multiple births. METHODS Cases of congenital anomaly inclu...

Talipes equinovarus (clubfoot) is a skeletal anomaly of the embryo's legs, with a frequency of 1-3:1000 living born babies. It may occur as an independent anomaly, or as part of a syndrome with concomitant chromosomal abnormalities.XYY syndrome is a quite rare sex chromosomal abnormality with 47, XYY karyotype. Prenatal diagnosis is usually accidental because the syndrome is not associated with...