Trisomy 9 syndrome in a neonate with unusual features

To report a newborn infant with multiple congenital anomalies and apparent complete trisomy 9 in the blood. Review will be included. Clinical examination, TORCH screening, echocardiography, skeletal survey, ultrasound head and abdomen were done. In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed. Multiple congenital anomalies including craniofacial features, central nervous, cardiovascular, skeletal, gastric and urogenital systems because of chromosomal abnormality which indicated: 47, XY, inv [9] [p12; q13]+inv [9] [p12; q13] mat. Our case could be a new case of apparently complete trisomy 9 syndrome with unusual findings

Acrodysostosis in a kuwaiti boy: a brief clinical report

This report describes a Kuwaiti boy with Acrodysostosis. This disorder is characterized by short nose, open mouth, prognathism and short hands/feet. Mental deficiency is frequent and cone epiphyses occur in this condition. Clinical examination, skeletal survey, echocardiography, ultra-sonography and chromosomal analysis were carried out. On examination he had short stature mainly acromelic and the hands did not show the trident sign of dyschondroplasia. He had also a characteristic facies with broad/flat nasal bridge, short nose with upturned nostrils, congenital heart [VSD] and mental retardation. Radiographic examination showed acromelia, cone-shaped epiphyses of bones of hands/feet and scoliosis of thoracolumber region of the spine. CT-scan brain showed mild ventriculomegaly and brain atrophy. Our patient could be a typical case of acrodysostosis with auto-somal dominant mode of inheritance

Partial Monosomy of 21q22.13-q22.2 in an Egyptian boy

A rare case of de novo interstitial deletion of the long arm of chromosome 21 involving 21q22.13-q22.22 is described here. This finding was detected by high resolution banding techniques and then confirmed by FISH study. The phenotypic abnormality was to some extent similar to that previously found in cases reported with deletion of 21q, spanning the long arm of chromosome 21 from the centromere to 21q22. This is the first reported case at Kuwait Medical Genetics Centre with abrasion involving this region. It supports what was previously suggested that the critical region for full phenotype expression lies distal to 21q21, within 21q22.1-q22.2

Osteopathia striata with cranial sclerosis: a brief clinical report on a bedouin girl

This report describes a case of osteopathia striata with cranial sclerosis [OS-CS] in a Bedouin girl. This patient to our knowledge is the first case to be reported in KMGC, throwing light on the clinical and radiological findings. Clinical examination, skeletal survey, echocardiography, ultrasonography and chromosomal study. The patient had craniofacial dysmorphic features including overgrowth of the craniofacial bones which is characteristic of the disorder, developmental delay, hearing impairment, congenital heart [VSD] and she had also repeated attacks of seizures. Radiographic findings included marked ossification and sclerosis of the base of the skull and metaphyseal widening of long bones with linear striations. In the few reported cases of OS-CS all over the world, our case could have the typical form of the syndrome with dominant inheritance and the first case to be described in Kuwait

XX male: a report of two unrelated cases and review of literature

Two unrelated phenotypically males with 46,XX karyotype are presented. The first patient is 5.5 year old who presented with congenital undescended testis while the other patient is 35 year old who has infertility since 6 years. Hormonal profile of the second patient is consistent with hypergonadotrophic hypogonadism with low testosterone level. The first patient's profile revealed a picture consistent with 21-hydroxylase deficiency. FISH technique using [Quint-Essential-Y-specific DNA probe] specific for Yp11.2 region was applied on metaphase spreads revealed the presence of Yp11.2 sequence on the short arm of the X chromosome in the second patient while it was absent in the first patient. DNA analysis of both patients using SRY gene amplification revealed the existence of SPY gene in the second patient and absence of the gene in the first patient. The possible underlying mechanisms for sex reverse in both cases are discussed

Clinico - genetic study of dystrophinopathies: a comparative study between Kuwait and Egypt

Duchenne and Becker muscular dystrophies [DMD and BMD] are one of the most common X-Linked disorder in human which are caused by mutations of the dystrophin gene located on the X chromosome. This study was carried out in both Kuwait and Egypt. Fifty two patients with dystrophinopathies were examined from both Kuwait and Egypt in order to [1] study some characteristic features of those patients and [2] identify gene deletions among them. Twenty six patients were selected randomly from both Kuwait and Egypt A special questionnaire including all relevant data was designed for this study. All patients were subjected to all relevant investigations including DNA analysis and muscle biopsy analyzed with three dystrophin monoclonal antibodies. The statistical package for social science [SPSS], Z test, Chi square test and Student t test were used for statistical analysis. There was a significant difference between the Kuwaiti and Egyptian patients regarding maternal age [P<0.005] but not for paternal age. The onset of walking was delayed in 40.6% of the cases while the onset of weakness was noticed in 19.3% of the Kuwaiti patients before 2 years of age. Wheel chair dependency was observed in 88.8% between the age 7-12 years. In both groups 82% have an IQ above 70 and 26% had lQ above 100. ECG abnormalities were seen in 77.8% of the patients. DNA analysis showed that 71.4% of the patients had a deletion in the gene while 28.6% had no deletion. Two deleted exons were found in 24.5% and 14.3% had only one deleted exon. The most common deleted exons among Kuwaiti patients were 8, 45, 48 while exons 19, 45, 48 and 51 were deleted more commonly in the Egyptians. Better identification, neonatal screening and DNA examination are urgently needed for precise diagnosis. Proper genetic counseling and prenatal diagnosis are strongly recommended for prevention and management