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Biomedical subjects

S R Patil

Publications and source records attributed to S R Patil.

13 recordsLinked to original sources

Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations.

We observed a pericentric inversion of chromosome 6 in three generations of one family. Carriers had several phenotypic alterations including congenital cataracts, hearing loss, dental anomalies, ear anomalies, premature graying, unilateral strabismus, coloboma, and mild mental retardation. These manifestations may all be explained by a failure or delay in development of tissues derived from neural crest cells and are similar to these seen in the Rieger syndrome. The description of this family extends the known phenotypic abnormalities associated with alterations of chromosome 6.

Abnormalities, Multiple

Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization.

Seven dicentric bisatellited marker chromosomes, ascertained at amniocentesis, chorionic villus sampling, and in blood from an abnormal liveborn were characterized cytogenetically. All seven markers demonstrated brilliant bands by the DA/DAPI technique corresponding to C-band positive regions. Although some dicentric DA/DAPI-positive bisatellited markers have been identified as inverted duplicated 15s, recent literature has suggested that DA/DAPI lacks specificity for chromosome 15. Our evaluation of DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization shows that some originate from chromosome 15 whereas DA/DAPI negative bisatellited markers may not be derived from 15. The morphological variations noted in our studies are discussed with respect to nomenclature.

Amniocentesis

Trisomy 13: a new recurring chromosome abnormality in acute leukemia.

A new recurring chromosome abnormality was identified in 8 of 621 consecutive successfully karyotyped adults with de novo acute leukemia. These eight patients had trisomy 13 as the sole cytogenetic abnormality. On central morphologic review, five cases were classified as subtypes of acute myeloid leukemia, one as acute mixed lymphoid and myeloid leukemia, one as acute lymphoid leukemia, and one as acute undifferentiated leukemia. Blasts of all eight cases expressed one or more myeloid differentiation antigens. Three also expressed T-lineage-associated antigens; however, none of these had rearrangement of the T-cell receptor beta, gamma, or delta genes. Four of six cases tested were TdT positive. All eight patients with trisomy 13 were treated with intensive induction chemotherapy; only three entered a short-lived complete remission. Survival of patients with trisomy 13 ranged from 0.5 to 14.7 months, and was significantly shorter than that of the remaining patients (median 9.5 v 16.2 months, P = .007). We conclude that trisomy 13 is a rare, recurring clonal chromosome abnormality in acute leukemia associated with a poor prognosis. Malignant transformation of an immature hematopoietic precursor cell is suggested by the expression of antigens characteristic of both the myeloid and lymphoid lineage, the high incidence of TdT positivity, and the morphologic heterogeneity in these leukemias.

Acute Disease

Pentasomy X with multiple dislocations.

We describe a pentasomy X (49,XXXXX) patient whose multiple dislocations led to a consideration of the Larsen syndrome. Review of the 11 reported cases of pentasomy X showed that elbow dislocations are known to occur in this syndrome. Our patient is the first to present hypoplasia of the glenoid process with consequent should dislocation. Clinical and radiologic findings of previously reported cases of pentasomy X are reviewed.

Abnormalities, Multiple

Retinoblastoma Y79 cell line: a study of membrane structures.

The continuous retinoblastoma cell line Y79, grown in suspension culture, has been examined by transmission and scanning electron microscopy, including freeze-fracture replica preparations. Four classes of cells were distinguishable by their size and surface characteristics. The surface structures included blebs, filopodia, lamellipodia, microvilli, and microplicae. The possible origin of a most unusual type of cell, apparently forming natural clones, is discussed.

Cell Line

Classification of qh regions in human chromosomes 1, 9, and 16 by C-banding.

We present a classification for secondary constriction (qh) regions with C-banding technique in chromosomes 1, 9, and 16 by means of comparing them to the short arm of chromosome 16. It is simple and convenient and can be used routinely. It can be incorporated into the modified Paris nomenclature system.

Chromosomes, Human

A possible association of long Y chromosomes and fetal loss.

Long Y chromosomes is a relatively unbiased large sample of newborn infants were measured. The proportion of prior abortions was increased twofold in mothers of long Y infants compared to the control in the Caucasian sample. Our results indicate that an increased length of Y chromosome may be an important cause of fetal loss.

Abortion, Habitual