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Biomedical subjects

M K Kukolich

Publications and source records attributed to M K Kukolich.

8 recordsLinked to original sources
PubMed1991

Tetrasomy 9p: an emerging syndrome.

An infant with non-mosaic 9p tetrasomy is described. The tetrasomy apparently results from a translocation involving the 9qh region. All the cells analyzed from multiple banding techniques from lymphocyte culture as well as skin fibroblast culture were 9p tetrasomic. The infant, who had the characteristic dysmorphic features of 9p tetrasomy, survived for 2 months. Prominent features included: low birth weight, severe retardation, brachycephaly with large anterior fontanelle, hypertelorism with short bilateral palpebral fissures, beaked nose, bilateral cleft lip and palate, and low-set, malformed ears. Skeletal anomalies, ambiguous genitalia and heart defect were also observed. These features are highly characteristic of the 9p tetrasomy syndrome based on six pure tetrasomy and four cases of tetrasomy that included part of the 9qh region.

Abnormalities, Multiple↗
PubMed1990

Euchromatic 16p+ heteromorphism: first report in North America.

A heteromorphism of the short arm of 16 (16p+) was discovered in 2 unrelated infants. By G banding, the euchromatic variant appears as a light and a medium dark band just distal to the centromere. This results in an increase of the short arm by about 1/3. The same variant was present in the normal father and the normal paternal grandmother in one family and mildly retarded mother in the 2nd family. The anomalies of the 2 infants are not similar and are apparently unrelated to the 16p+ variant. Though the discovery of such euchromatic variants is highly significant for clinical diagnosis, their genetic significance and mode of origin remain to be elucidated.

Abnormalities, Multiple↗
PubMed1990

Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.

Apparently the first patient with de novo mosaicism 46,XX,t(13q13q)/46,XX,-13,+r(13) is described. The two cell lines were present at a frequency of 34% and 66%, respectively. The infant survived for about three months. The prominent dysmorphic features were: birth-weight and head circumference below the 3rd centile, encephalocele, multiple skin tags of low set dysplastic ears, coloboma of the left iris, short upward slanting palpebral fissures, and prominent nasal root. An imperforate anus, recto-vaginal fistula, enlarged adrenals, missing/hypoplastic kidneys, and limb anomalies were also present. It is postulated that the ring is a secondary anomaly arising from the 13q13q translocation.

Abnormalities, Multiple↗
PubMed1989

Trisomy 22: no longer an enigma.

We describe a live-born male with 47,XY,+22. He had multiple congenital anomalies, severe growth retardation and psychomotor delay. Physical manifestations included broad nasal bridge, epicanthic folds, micrognathia, long philtrum, cleft palate, microcephaly with prominent occiput, apparently low-set malformed ears, heart murmur, genital anomaly, clinodactyly of the fifth fingers, and a low total finger ridge count. He died just before his 3rd birthday. Chromosome analysis by multiple banding techniques based on lymphocyte and fibroblast cultures confirm that the boy had complete trisomy 22.

Abnormalities, Multiple↗
PubMed1978

Partial deletion 10q.

The patient described represents the first reported case of partial deletion 10q. The patient is compared to the partial trisomy 10q syndrome.

Asthma↗
PubMed1977

Sudden infant death syndrome: normal QT interval on ECGs of relatives.

Genetically determined prolongation of the QT interval on ECGs has been proposed as one basic pathogenetic mechanism for the sudden infant death syndrome (SIDS). ECG studies in a total of 108 first-degree relatives of 26 patients with this syndrome in comparison with 99 such subjects from 22 control families failed to show any significant differences in the QT interval in these two groups. Hereditary prolongation of the QT interval is therefore unlikely to be a significant factor in the etiology of the vast majority of cases of SIDS.

Adult↗