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Biomedical subjects

S A Al-Awadi

Publications and source records attributed to S A Al-Awadi.

At least 37 records · Page 2Linked to original sources
PubMed1987

Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.

A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46,XX/46,XY karyotype. Histopathology of the gonads confirmed true hermaphroditism. The presence of two genetically different erythrocyte populations was observed. The findings suggested that the patient is a true hermaphrodite dispermic chimera.

Adolescent↗
PubMed1987

Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome?

A five year old boy is reported with hypoplastic, bowed tibiae and postaxial polysyndactyly. Sixteen relatives of both sexes in four generations either have bilateral syndactyly or postaxial polydactyly or both. The nature of the condition and the possible mode of inheritance are discussed.

Child, Preschool↗
PubMed1987

Robertsonian translocation t dic (14p;22p) with regular trisomy 21: a possible interchromosomal effect?

Robertsonian translocations occur in about 2.5% of Down syndrome. We report here a Down syndrome with karyotype, 46,XX,-14,-22,+der t dic(14p;22p)pat, +21. Proband's father, two sisters, and a brother are phenotypically normal, heterozygous carriers for dicentric t(14;22). This is the only case of a translocation t(14;22) with regular trisomy 21 in our series of 600 Down syndrome cases investigated. The prevalence of balanced Robertsonian translocations in parents of Down syndrome might be higher if all the parents of trisomy 21 individuals were routinely investigated. The case is of interest in understanding the possibility of interchromosomal effect in the etiology of non-disjunction in Down syndrome.

Child, Preschool↗
PubMed1987

Multiple pterygium syndrome in five Arab sibs.

This report describes an Arab family in which the parents are first cousins and with 5 siblings having multiple pterygium syndrome. The last pregnancy which produced an affected sib was prenatally diagnosed by ultrasonography. Intrafamilial variability of clinical features is discussed. The report stresses the importance of the differentiation between various genetic entities with multiple pterygium.

Adolescent↗
PubMed1986

Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)].

A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery.

Abnormalities, Multiple↗
PubMed1986

Nonsyndromal anencephaly: possible autosomal recessive variant.

The recurrence of anencephaly in families has been explained on a multifactorial basis. We present two unrelated families with three sibships of several nonsyndromal anencephalics including two pairs of concordantly affected like-sex twins. A rare autosomal recessive variant is proposed and inheritance is discussed in view of parental consanguinity among the two affected sibships in one family.

Anencephaly↗
PubMed1986

Severe short-limb dwarfism resembling Grebe chondrodysplasia.

A severe, nonlethal short-limb bone dysplasia is described in two unrelated patients. The disorder is characterized by a peculiar facial appearance, rib anomalies and severe shortness and distortion of individual long bones, notably the humeri, tibiae, fibulae, metapodia and phalanges with marked irregularity and asymmetry of bone changes. The condition is differentiated from other bone dysplasias with extreme limb shortness, in particular Grebe chondrodysplasia.

Achondroplasia↗
PubMed1986

The effect of consanguineous marriages on reproductive wastage.

A stratified representative sample size of 5,007 Kuwaiti females aged 15 years and above was drawn during 1983 and structurally interviewed to study the influence of consanguineous marriages (up to the second cousin) on reproductive wastage. Losses comprised prenatal deaths (abortions and stillbirths) and neonatal deaths (up to the first month of life). The rate of consanguineous mating in the sample was 54.3% with 95% confidence limits estimated rate 52.9% to 55.7% when projected over the whole Kuwaiti population. First cousin marriages accounted for 30.2% of the sample followed by 22.1% less than first cousin (first cousin once removed and second cousins) and 2% only double first cousin. The study showed higher prenatal and neonatal losses among consanguineous (14.2%, 2.97%) than nonconsanguineous (13.97%, 2.54%) although not statistically significant. No consistent increase in reproductive wastage was evident as the inbreeding coefficient, F, advances mainly because of decline in the wastage rate among the double first cousin marriages which represents only 2% of our sample.

Abortion, Spontaneous↗
PubMed1986

Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report.

A 35-year-old male was investigated for primary infertility. Clinical examination showed an intelligent man with normal facial appearance and moustache and small firm testes. Testicular histopathology revealed marked atrophy of the testes with no spermatogenesis and absence of germ cells. Hormonal profile showed elevated levels of FSH,LH and low levels of testosterone. Chromosome analysis from whole blood culture showed cells with 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY mosaicism. The predominant cell line was 47,XXY (87.86%). 46,XY/47,XXY mosaicism is not uncommon. However, mosaicism of multiple sex chromosome aneuploidy is rarely observed. This is the first report of mosaicism in Klinefelter's syndrome variant with five cell lines.

Adult↗
PubMed1985

Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females.

We describe 3 sibs, two females and a male, with hypogonadism, defective Müllerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely.

Adolescent↗
PubMed1985

Consanguinity among the Kuwaiti population.

A total of 5,007 Kuwaitis were ascertained to study the incidence of consanguineous marriages during 1983. The rate of consanguineous mating was found to be 54.3% with estimated population incidence rates 52.9 to 55.7%. First cousin marriages were the most frequent type. The average inbreeding coefficient was 0.0219 which could be considered high.

Adolescent↗
PubMed1985

Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32----qter.

A five-year-old boy with speech delay, minor facial abnormalities and borderline psychomotor retardation was found to have a complex de novo double translocation involving four chromosomes resulting in monosomy for the segment 13q32----qter. Chromosomes involved were 11, 13, 14, and 18. The translocation between chromosome 11 and 13 was unbalanced with the loss of the segment 13q32----qter. The second translocation between 14 and 18 was apparently balanced.

Child, Preschool↗