A modified thionin acridine-orange stain for mast cells.

For in vitro studies in mesentery, toluidine blue and thionin dyes are generally used. We have tried thionin and acridine orange stains and found it to be good as it showed good colour contrast between mast cells and the background tissue. The two dyes were selected to give good colour contrast.

Dermatoglyphics in 46, XY females.

Dermatoglyphics is known to be one of the best available diagnostic tools in genetic disorders. This paper aims to find out the diagnostic characteristic dermatoglyphic features in cytogenetically confirmed 46, XY female patients. The total number of patients studied (46, XY females) were 31 and the control consisted of 30 males and 30 females. Dermatoglyphic features, studied and tabulated, were: (a) Finger pattern frequency, (b) total finger ridge count (TFRC), absolute finger ridge count (AFRC), a-b ridge count, 'atd' angle and (c) palmar patterns eg, simian crease, Sydney line, hypothenar pattern, interdigital patterns. Results confirmed significant differences between the 46, XY females and the control groups: (i) 46, XY females had increased ulnar loops but decreased whorls as compared to control males (overall finger pattern frequency). (ii) The right thumb in 46, XY females had less whorls and more ulnar loops than both male and female control groups (individual finger pattern frequency). (iii) 46, XY females had lowered TFRC, AFRC, a-b ridge count than corresponding control groups (both control males and females). Significant differences were not observed for the 'atd' angle, interdigital patterns, hypothenar pattern, simian crease and Sydney line.

An unusual case of haemophilia--a case report.

Haemophilia in a female is very rare. We report a case of haemophilia in a female with a male sex chromosome pattern.

Structural chromosomal anomaly in mental retardation.

This article reports the structural chromosomal anomaly in three patients with mental retardation: (i) Proband was a five year old girl with reciprocal retardation (1; 2) (p32; q11) (ii) Proband, female of 14 years. Her karyotype showed translocation (1; 3) (q42; q13). The translocations were de novo in origin (iii) Proband showed variant 13 as the giant satellite over its short arm, and this was paternal in origin. Proband, eighteen months old male child had microcephaly and seizures. These two features may be because of autosomal recessive condition. This report emphasises the need for kayotyping to provide a clear cut diagnosis and appropriate counselling.

Partial 1q and 21p trisomies in a male child due to maternal t(1;21).

Proband 7 years old male child referred for cytogenetic investigation revealed 47, XY + der (21), t(1;21) (q32;q11) mat.

Primary amenorrhea with Xq duplication.

Two female patients aged 16 and 17 years with Turner features short stature, amenorrhea and gonadal dysgenesis were referred for cytogenetic confirmation and counselling. Their karyotypes were 46, X, dup (X) (q13-->q22). The clinical and the cytogenetic picture have been correlated.

Spontaneous Expression Of Fragile Site at Xq27.3 In a Fragile X patient.

Fragile site at Xq27.3 is classified as a rare fragile site which is observed only under conditions of folate depletion Here we report a case where fragile site at Xq27.3 was detected in normal RPMI 1640 medium without induction, in the lymphocytes of a patient clinically diagnosed as fragile X patient. At the molecular level both an expansion and methylation of (CGG)n repeat at FMRI was detected.

Consanguinity, non-disjunction, parental age and Down's syndrome.

The effect of consanguinity on the non-disjunction mechanism in Down's syndrome, was examined in 417 cytogenetically confirmed Down's syndrome patients. The incidence of parental and grandparental consanguinity was 17.5% (n = 73), while that of only parental consanguinity was 17.2% (n = 71). First cousin marriages occurred more frequently, than uncle-niece and 2nd cousin marriages. With regard to parental age, only the mean age difference between consanguineous couples significantly differed from non-consanguineous couples. The inbreeding coefficient did not differ between trisomy 21 and translocation Down's families. From this study, it is concluded that consanguinity does not predispose to Down's syndrome.

A simple device for embalming cadavers.

A simple design of a mobile embalming unit is presented that offers better quality embalming and is fairly economical. The technique is faster and consistently more reliable than the conventional gravity aided embalming.

Down syndrome associated malformations.

This paper reports the associated malformations and the clinical findings that were observed in 417 cytogenetically confirmed Down Syndrome patients. Among them congenital heart defects have occurred more frequently [75; 17.98%] than osteoarticular malformations [23; 5.52]; eye anomalies [22; 5.27%]; and gastroenterological malformations [n 16; 3.84%]. With regard to prognosis and treatment appropriate counselling has been given to Down Syndrome patients and their families.

Finger ridge count and finger print pattern in maturity onset diabetes mellitus.

Total finger ridge count, absolute finger ridge count and finger print pattern were studied in 150 maturity onset diabetes mellitus patients and compared to 120 controls. Significant findings were: in males, with both hands combined and separately (i) an increase in radial and ulnar loops and arches (ii) A decrease in whorls. (iii) In females, an increase in ulnar loops and a decrease in whorls in the left hand was observed.

Frequency of cervical spine involvement in rheumatoid arthritis.

The cervical spine x-rays of a random number of patients with confirmed rheumatoid arthritis were taken. The presence of atlanto-axial subluxation, atlanto-axial impaction, subaxial subluxation and any other associated abnormalities was noted. The spinal canal diameter was also measured which was not significantly altered in rheumatoid arthritis cases. Cervical spine disorders were seen to occur in 16 cases (69.6%) out of 23 patients. Spondylosis was the most frequent disorder ie, in 10 cases (62.5%) out of 16. Obliteration of the normal lordotic curve and disc lesions occurred in 3 cases (18.7%) each out of 16. The mean spinal canal diameter was 16.30 +/- 2 mm with a range of 13-23 mm. Female patients (73.3%) had an increased cervical spine disorder than males (62.5%). Seropositive rheumatoid arthritis cases (87.5%) were mostly involved in occurrence of disorder than those of seronegative arthritis cases (46%).

Familial marker in a Down Syndrome Child.

Four months old, female child, referred for cytogenetic analysis, showed mosaiciam for the marker chromosome. Her karyotype: 47,XX,+21/48,XX+21 mar (pat). The karyotype of her mother & her sib were normal. Her father showed, similar to the proband, mosaicism for the marker ie 46,XY/47,XY, + mar. AgNOR technique determined the marker as fused short arms of the acrocentric chromosome. Four months old, female child, referred for cytogenetic analysis, showed mosaiciam for the marker chromosome. Her karyotype: 47,XX,+21/48,XX+21 mar (pat). The karyotype of her mother & her sib were normal. Her father showed, similar to the proband, mosaicism for the marker ie 46,XY/47,XY, + mar. AgNOR technique determined the marker as fused short arms of the acrocentric chromosome.

Dermatoglyphics in Down's syndrome.

Dermatoglyphic data were obtained from 235 cytogenetically confirmed patients of Down's syndrome. The data were correlated and compared with 230 controls. Printing and transparent adhesive tape photography methods were used to get the dermatoglyphic prints. Patients' total finger ridge counts and 'atd' angles differed significantly from that of the controls. Mostly ulnar loop pattern was observed in the patients. Abnormal dermatoglyphic features such as, simian crease, Sydney line and patterns in the hypothenar and interdigital areas have occurred more frequently in the patients. Dermatoglyphics and the analyses carried out have proved that they are invaluable in their clinical value, in selecting patients of Down's syndrome for cytogenetic analysis.

Cytogenetic investigations in Down syndrome patients & their parents.

A total of 1343 mentally retarded patients referred for cytogenetic evaluation were studied. Of these Down syndrome was confirmed in 365 (21.17%). There were 316 patients of trisomy 21 (86.58%); 21 of mosaicism (5.75%) and 28 of translocation (7.67%). Trisomy 21 patients with chromosomal variants were observed in 17 (4.65%). A 1.37:1 male:female ratio was seen. Karyotyping was also done on 182 parents (of patients of mosaic Down, translocation Down and trisomy 21 with chromosomal variants and in parents with suspected low mosaicism). Mosaic trisomy 21 cell line was found in one mother (0.27%); 6 parents (1.65%) were seen to be translocation carriers and 7 had chromosomal variants (1.92%). Cytogenetic investigations help to give appropriate genetic counselling to patients and their families.