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Biomedical subjects

F Yen

Publications and source records attributed to F Yen.

8 recordsLinked to original sources
PubMed2000

Case of partial duplication 2q3 with characteristic phenotype: rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion.

We report on a male infant with partial trisomy 2q (q34-->qter) resulting from a maternal pericentric inversion of chromosome 2 (p25. 2q34). The infant had clinical findings similar to the characteristic phenotype associated with a partial duplication of chromosome 2q3. Carriers of pericentric inversions of chromosome 2 have an increased risk of pregnancy loss but have only rarely been reported to have a liveborn offspring with an unbalanced chromosome constitution. This case further confirms the risks associated with a pericentric inversion of chromosome 2 and is the second report with manifestations of the trisomy 2q3 phenotype.

Adult↗
PubMed1999

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: overlapping manifestations of characteristic phenotypes.

We report on a female infant with partial trisomy 9p (pter-->p13) and partial trisomy 14q (pter-->q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic patterns of anomalies. This patient appears to be the first reported with a partial duplication of both 9p and 14q resulting in an overlapping phenotype including minor facial anomalies, cleft palate, and hand-foot anomalies. However, the facial findings were more pronounced than commonly observed in cases with only one or the other duplicated chromosome regions, resulting in a distinctive appearance.

Chromosome Banding↗
PubMed1997

XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype.

Most phenotypic females with an XY male karyotype do not have significant extragenital anomalies; however, some patients with additional abnormalities have been described. We report on an individual with XY gonadal dysgenesis, mental retardation, microcephaly, growth retardation, and multiple pterygia. Although not previously reported, the possible relationship between these findings is discussed in the context of evident heterogeneity of XY gonadal dysgenesis.

Child↗
PubMed1991

Occurrence of high-grade T-cell lymphoma in a patient with Philadelphia chromosome-negative chronic myelogenous leukemia with breakpoint cluster region rearrangement: case report and review of the literature.

In this report, we describe a patient with Philadelphia chromosome-negative chronic myelogenous leukemia (CML) with breakpoint cluster region gene rearrangement who developed T-cell lymphoblastic lymphoma. The occurrence of T-cell lymphoblastic lymphoma coincided with the appearance in the bone marrow of the cytogenetic abnormality, trisomy 22q11.2----22qter. This is the first report of high-grade T-cell lymphoma in a patient with documented CML.

Adult↗
PubMed1988

Mild intellectual deficits in a child with 49,XXXXY.

Severe mental retardation usually is present in males with a 49,XXXXY karyotype, although occasionally, intellectual functioning has been reported to be in the mild range of mental retardation. One child was previously described to have normal development at 15 months, but had mental retardation at 41 months. We present a male with 49,XXXXY who had mild-cognitive and motor delays and age-appropriate adaptive skills at 59 months. Greatest deficits were in expressive verbalizations similar to other male sex chromosome abnormalities. Mosaicism could not be demonstrated in blood or skin specimens. Although most males with 49,XXXXY syndrome will have significant mental retardation, findings in our patient and other reports suggest that variability in intellectual functioning may occur, in some instances, and may justify guarded optimism in affected males demonstrating close to or age-appropriate developmental skills through early childhood.

Abnormalities, Multiple↗
PubMed1979

A multinational Andean genetic and health program. VIII. Lung function changes with migration between altitudes.

Studies of lung function in high altitude populations have suggested the influence of hypoxic environment on the development of this characteristic independent of confounding variables such as ethnicity and habitual exercise. However, often the effect of altitude on vital capacity is greater in children than adults, suggesting that more than developmental adaptation is operative. Also selective migration could account for the similarity of migrants and permanent residents at a destination altitude. To explore these problems we studied the lung function (FVC, FEV1, PFR) of 377 individuals who had migrated between altitudes in northern Chile. Migrant measurements were adjusted to those of permanent residents of appropriate age, sex and height at the altitudes of origin and destination. The measurements were then related to ethnicity (Spanish-Aymara ancestry), occupation and permanence, the latter combining information on both age at migration to and length of stay at a destination altitude. Upward migration was associated with increased chest depth, FVC and FEV1, but not height or other chest measurements. Downward migration had no significant effect. The flow-dependent test PFR was so sensitive to observer variability and occupation that it was difficult to establish its relationship to permanence. Unlike the body measurements, lung function measurements (especially PFR) tended to deviate from permanent controls at the origin altitude in a direction suggestive of selective migration, nor was permanence itself independent of ethnicity and occupation. Because of these difficulties the question of developmental adaptation in lung function may not be answerable in cross-sectional studies like the present and previous efforts, but rather in longitudinal investigations in which the control is the individual him/herself.

Adaptation, Physiological↗