We present a 16-month-old boy with developmental delay, minor anomalies, small penis, and lymphedema of the upper limbs. Routine cytogenetic analysis suspected a duplication of 5q. Fluorescent in situ hybridization (FISH) with a cosmid probe (MCC at the 5q22 APC region) showed tandemly duplicated fl
Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature
โ Scribed by Schwartz, Stuart; Depinet, Theresa W.; Leana-Cox, Julie; Isada, Nelson B.; Karson, Evelyn M.; Park, Vicki M.; Pasztor, Linda M.; Sheppard, Linda C.; Stallard, Richard; Wolff, Daynna J.; Zinn, Arthur B.; Zurcher, Vickie L.; Zackowski, Joleen L.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 63 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970711)71:1<1::aid-ajmg1>3.0.co;2-1
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โฆ Synopsis
Fluorescence in situ hybridization (FISH) using biotin labeled X-and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of Ullrich-Turner syndrome, mental retardation, and minor anomalies or ambiguous genitalia; three were spontaneous abortuses. Twelve markers were derived from the X chromosome and eleven from the Y chromosome; this demonstrates successfully the value and necessity of FISH utilizing DNA probes in the identification of sex chromosome markers. Both fresh and older slides, some of which had been previously G-banded, were used in these determinations. We have also reviewed the literature on sex chromosome markers identified using FISH.
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