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Paternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith–Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental delay. We describe a 15-month-old girl presenting with protruding tongue, dysmorphic facial features, moderate developmental delay, umbilical hernia, hypotonia, mild-to-moderate pulmonary hypertension, small patent ductus arteriosus, and mild ventricular septal hypertrophy. Brain magnetic resonance imaging showed mild atrophic changes. Chromosomal analysis revealed 46, XX, add(18)(q23). Fluorescence in situ hybridization using subtelomere 18q and whole chromosome painting 18 showed subtelomere deletion in 18q, and the add segment was not derived from chromosome 18. Microarray-based comparative genomic hybridization detected a 22 Mb duplication of chromosome 11p15.5p14.3 and a 3.7 Mb deletion of chromosome 18q23. The phenotype of the chromosomal rearrangements is probably resulted from a combination of dosage-sensitive genes. Our patient had clinical manifestations of both 18q deletion and BWS.

Background Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. Methods We studied the phenotype–genotype correlation. Results We present the clinical manifestations and cytogenetic results of 10 unrelated Egyptian patients with 4p deletions. Karyotyping, FISH and MLPA was performed for screening for microdeletion syndromes. Array CGH was done for two patients. All patients exhibited the cardinal clinical manifestation of WHS. FISH proved deletion of the specific WHS locus in all patients. MLPA detected microdeletion of the specific locus in two patients with normal karyotypes, while array CGH, performed for two patients, has delineated the extent of the deleted segments and the involved genes. LETM1, the main candidate gene for the seizure phenotype, was found deleted in the two patients tested by array CGH; nevertheless, one of them did not manifest seizures. The study emphasized the previous. Conclusion WHS is a contiguous gene syndrome resulting from hemizygosity of the terminal 2 Mb of 4p16.3 region. The Branchial fistula, detected in one of our patients is a new finding that, to our knowledge, was not reported., clinical, neurological, and molecular cytogenetic analysis of 10 Egyptian patients diagnosed with Wolf–Hirschhorn syndrome (WHS). Diagnosis was confirmed by genetic analysis through karyotype, FISH, MLPA, and array CGH with a new clinical finding which that, to our knowledge, was not reported before in WHS, extending the phenotypic spectrum of the disorder.

Congenital heart disease (CHDs) -whether it is associated with pulmonary hypertension (PH) or not- is the most common malformation in children. It is an important cause of infant mortality, long term morbidity and disability. Aim of the study is to assess the role of some genetic and environmental risk factors in patients with CHDs associated with PH. Subjects and methods: A case-control study was conducted and included 3 groups of cases; 37 patients with CHDs associated with PH, 37 patients with CHDs and 37 children without any congenital malformations were taken as a control group. The following clinical information was collected through predesigned questionnaires: maternal age at conception; parental consanguinity; maternal gestational diabetes (DM) and hypertension, adverse reproductive history (abortions and still births); and maternal environmental tobacco smoking (ETS) and deficient folic acid intake during pregnancy. Cytogenetic study for patients in the first and second groups of cases was carried out. Results: Chromosomal abnormalities were detected in 13.5% of patients with CHDs associated with PH and 10.8% of patients with CHDs. Maternal age, adverse reproductive history, maternal gestational DM and hypertension were not found to be significantly associated with congenital heart diseases in this study, while parental consanguinity, low maternal education level, maternal ETS and deficient folic acid intake during pregnancy were significantly associated with CHDs. Conclusion: It is crucial to make proper decisions and implement policies for lowering consanguineous marriages and provide proper pre-marital counseling and improving antenatal care to control the cases of CHDs.