Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...

INTRODUCTION Hypomelanosis of Ito was originally described as a purely cutaneous disease. Extracutaneous manifestations were described later, forming a neurocutaneous syndrome including skeletal, muscular, ocular and central nervous system symptoms.Hypomelanosis of Ito is characterized by a depigmentation along the lines of Blaschko on the trunk and extremities in certain patterns.The aim of th...

I n my personal series of 3006 children with congenital hand abnormalities, the most common defect was extra digits (528 cases), next was webbed fingers (429 cases), and third was abnormalities of the little finger (354 cases). Any of the digits of a newborn may show deviations in alignment to the palm. However, it is the ulnar side of the hand, and usually the little finger, that most commonly...

Background: One of the most important principles that govern life is inheritance of genes. There are over 200 traits that are transmitted from generation to generation in humans. When one of the two parents expresses the trait, there is 25-50% likelihood of passing it to any of the children; but if both parents have it, the probability doubles (50-100%). There are three main types of bent littl...

Multiple patients with rearrangements of the short arm of 8p23.1 have been reported, including inverted and tandem duplications of 8p, deletions of 8p23, pericentric inversions (p23q22), and isolated duplications of 8p23. The clinical significance of duplication of 8p23.1 remains controversial. Krasikov et al, Williams et al, Barber et al, and O’Malley and Storto together have reported 29 patie...

A 4 month old male infant was referred to the genetic clinic for investigation of 'odd facies'. He had been admitted to the paediatric ward with respiratory infection and septicaemia. He was the first child of consanguineous parents (first cousins), born after 40 weeks of gestation. There was no history or suggestion of exposure to teratogens or infection during the pregnancy and delivery was n...

BACKGROUND Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardat...

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagn...

To the Editor Cardiofaciocutaneous syndrome (CFC) is a multiple congenital anomaly syndrome characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay[1]. CFC is caused by mutations in BRAF, MEK1, MEK2, KRAS genes encoding proteins of the RAS/MAPK signaling pathway. In more than 70% of CFC patients, BRAF mutations are detected[2]. We present here a 10...

To the Editor : Kabuki syndrome (OMIM 147920), also known as Niikawa–Kuroki syndrome (NKS), is characterized by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, mental retardation, and growth deficiency (1, 2). Recently, mutations in the MLL2 gene were identified as the genetic cause of NKS (3). Hardikar syndrome (HS; OMIM 612726) is a multiple congenital anomalies...