Apparently nonmosaic trisomy 22: clinical report and review.

We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.

Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies.

Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.

A new autosomal recessive disorder resembling Weaver syndrome.

Most reported cases of Weaver syndrome are sporadic, and the mode of inheritance is still unclear. We describe two (male and female) sibs born to consanguineous Bedouin parents with manifestations resembling Weaver syndrome. Both sibs had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse low-pitched cry. One of them had an accelerated harmonic skeletal maturation. Differentiating features from Weaver syndrome are discussed, and autosomal recessive inheritance is suggested.

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.

Cytogenetics of non-small cell lung cancer: simple technique for obtaining high quality chromosomes by fine needle aspirate cultures.

Cytogenetic analysis of six non-small cell lung carcinomas (NSCLC) was carried out on overnight cultures of tumor material obtained from transthoracic fine needle aspirates to determine karyotype changes involved in the early stages of the disease. Multiple chromosome alterations were characterized. Numerical abnormalities included additional copies of chromosomes 3, 7, 8, 16, 17, and loss of chromosomes 1, 2, 6, 9, 12, 20, 21, and 22. Structural alterations included deletion or derivative chromosome 3 (band p14 or p21) in 5 patients. Clustering of other break points including 16q21, 17p13, 11p15, 15p12, 8p23, 4q27, 9p21, 12p13, 14p12, and i(Xq) was observed in the descending order of their involvement. These clonal abnormalities may be indicative of critical molecular events in the etiology of NSCLC.

Expression of common fragile sites in lymphocytes of Wilms tumor in patients, their parents, and siblings.

Fragile site expression in blood lymphocytes of 56 individuals, including 11 Wilms tumor patients, family members, and controls, was studied by 5-fluorodeoxyuridine induction with caffeine enhancement. Significantly elevated expression of fra(11)(p13) was observed in the patient group, compared with controls. One patient clinically diagnosed with the Wilms tumor, aniridia, and genitourinary and retardation (WAGR) syndrome revealed constitutional deletion of 11p13. Expression of fra(11)(p13) in this individual was observed only on the nondeleted homologue. Among the family members studied, only one sibling showed elevated expression of fra(11)(p13).

Tetrasomy 21 as a sole abnormality in erythroleukemia.

A 13-year-old girl presented with swelling in the neck, fever, bleeding of the gums, and hepatosplenomegaly. Bone marrow morphology was suggestive of erythroleukemia (AML-M6). Chromosome analysis of the marrow revealed 48,XX, +21, +21 as the sole clonal abnormality.

Expression of fragile sites in patients with retinoblastoma, their parents, and unaffected siblings: a study of ten families.

The expression of fragile sites (FS) in the blood lymphocytes of 54 individuals, including 11 retinoblastoma (Rb) patients, their clinically healthy family members, and corresponding age- and sex-matched controls is presented. 5-fluorodeoxyuridine (5-FdU) and caffeine were used for FS induction. Enhanced expression of fra(13)(q13.2) was observed in the patient group as compared with controls. One of the patients had a constitutional del(13)(q14.2q21.2). In this individual, only the nondeleted homologue expressed the fra(13)(q13.2). Expression of fra(13)(q13.2) in two of the patients' unaffected younger siblings of different families showed statistically significant values. The possible relation between enhanced expression of FS and the inheritance of a genetic predisposition to Rb requires further examination.

Normal expression of fra(3)(p14.2) in lymphocytes of lung cancer patients.

Fragile site (FS) analysis was performed in 10 bronchogenic carcinoma families (non-small cell type) each represented by the patient and one adult offspring. Twenty age- and sex-matched controls were evaluated simultaneously for FS expression. The question whether increased fragility at band 3p14 exists in lung cancer patients or their offspring was examined. The expression level was found to be similar among patients, offspring, and controls.

del(2)(p23) as a sole abnormality in a case of acute myeloid leukemia.

We report a case of acute myeloid leukemia (AML) [FAB-M5a] showing a deletion of the short arm of chromosome 2 at band p23 as a sole abnormality in the bone marrow cells. This abnormality deserves to be considered as an established nonrandom entity in AML.

Genetic susceptibility to oral cancer and the expression of common fragile sites. a study of 100 patients.

The expression of bleomycin-induced fragile sites (FS) in the blood lymphocytes of 150 individuals (100 oral cancer patients and 50 age and sex matched controls) is described. FS expression frequencies in oral cancer patients were significantly higher when compared with controls. FS expression was site specific in oral cancer patients. Chromosome 5 was the most affected, with four of its FS expressing in high frequencies. Enhanced expression of FS at the centromeric region was observed in the patient group. This study emphasizes the role of FS in the genetic susceptibility to oral cancer.

Submandibular synovial sarcoma with t(X;18) and synovial sarcoma of the toe with additional cytogenetic abnormalities: presentation of two cases and review of the literature.

We report cytogenetic findings from fine-needle aspiration samples of two synovial sarcoma patients. The cases are of interest because (1) one case is of a rare site (submandibular region) of the head and neck, and (2) the other is a patient with synovial sarcoma of the toe showing additional cytogenetic abnormalities along with t(X;18). The literature of this tumor is reviewed.

Variant complex translocation t(8;15;21) in acute myeloblastic leukemia (M2) associated with bilateral chloroma.

Complex translocation t(8;15;21)(q22;q21;q22) in a 9-year-old female with acute myeloblastic leukemia (M2) with bilateral chloroma is described. This particular variant type of translocation in M2 type is rare. The importance of variant translocation in defining the critical segment on the chromosomes responsible for phenotypic expression of the disease is emphasized.

Cytogenetic characterization of Ewing tumors using fine needle aspiration samples. a 10-year experience and review of the literature.

Chromosomal analysis was performed in fine needle aspiration samples of 98 primary Ewing tumors (ETs) prior to treatment. Among the 58 (59.18%) successful cultures, t(11;22)(q24;q12) was observed in 87.9% and 6.8% had abnormalities other than t(11;22), viz., del(22)(q12), der(16)t(1;16)(q12;q11), and variant t(8;22)(q24;q12). Involvement of breakpoints 1q21, 1q22, 3p14, 16q22, and 17p13 was also observed. Numerical abnormalities such as trisomies 8 and 12 were found in 29.3% and 20.6% and trisomy 18 in 17.2%. An attempt was made to evaluate the role of these additional changes in the process of tumor development, metastasis, and progression of the disease. This is the largest cytogenetic study on ET from a single center using a simple and reliable technique of fine-needle aspiration culture. The literature on cytogenetics of ET is reviewed.

Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis.

We report on an Arab family in which a mother and two of her daughters, despite having deletion Xq25, are fertile. So far, only one case of deletion Xq25 associated with fertility has been reported. Consistent inactivation of the deleted X chromosome in the proposita and early menopause in the mother were noted. The effect of Xq deletion on fertility and the CRH is discussed.

Segregation of acrocentric chromosome association in familial dicentric Robertsonian translocation t(14p;22p), aneuploidy (trisomy-21) and heteromorphism.

The frequency and types of acrocentric chromosome association were quantitatively analysed in a Down syndrome child with unusual karyotype, 46, XX, -14, -22, t dic (14p;22p), +21, 21S+. Father and 4 sibs were heterozygous carriers for t dic (14p;22p). The variant 21S+ was inherited from the mother. The occurrence of translocation and trisomy in the same individual is extremely rare. Acrocentric chromosome association was analysed in this interesting family to understand the interrelationship of acrocentric chromosome association, Robertsonian translocation and heteromorphism, as possible predisposing factors for nondisjunction. Our findings suggest that acrocentric chromosome association is a heritable and nonrandom phenomenon. Heterozygous carriers for translocations and variants are likely to be at increased risk of nondisjunction. Long term family studies will enable to ascertain the causal-relationship of these factors more precisely.

Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation.

A child with fragile secondary constriction 2q11 associated with unusual clinical features and psychomotor retardation is described. The pathogenetic significance of this fragile site still remains unclear, and heterogeneity of clinical manifestations is not well understood.