717 trisomy 20 mosaicism in amniocytes with delivery of infant normal save for punched-out scalp lesion


Play all audios:

ABSTRACT A woman with strong history of endometriosis underwent amniocentesis because of age (37). Amniotic cell cultures done at the Birth Defects Institute, NYS Dept. of Health, showed 30%


trisomy 20 cells in the first tap and 13% in the second tap (Harrison et al., Am J Human Gen 32:71A, 1980). At term an 8 lb 10 oz infant girl was delivered. She was clinically and


neurologically normal except for a 1 cm area of denuded skin to the left of the midline in the occipital area, reminiscent of the scalp lesion of trisomy 13. By 6 weeks of age it had


developed a raised cicatrix, as in trisomy 13 during “healing”. Blood karyotype was 46,XX. Developmental milestones have remained normal to present age 16 months. Four normal live births


have been previously reported after trisomy 20 mosaicism was detected in amniocytes (Am J Med Gen 2:365, 1978; Lancet 1:1089, 1980). At least 8 such pregnancies have been terminated, with 5


fetuses described as normal, 2 as dysmorphic and one not examined. Only in 2 cases have trisomy 20 cells been found in fetal tissues. Trisomy 20 mosaicism remains a troublesome finding in


amniotic cell cultures. Whether the cells are due to cultural artifact (Harrison et al., ibid.) or are derived from early trophoblast (Warburton) or fetal renal tissue (Boué) is still an


open question. The “trisomy 13” scalp lesion in the present patient seems hardly coincidental. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * SUNY Upstate Medical Center, Dept. of


Pediatrics, Syracuse and Slocum-Dickson Medical Group, Utica, NY. Lytt I Gardner, Joseph T Lanman Jr., David O Hakanson & Irwin E Redlener Authors * Lytt I Gardner View author


publications You can also search for this author inPubMed Google Scholar * Joseph T Lanman Jr. View author publications You can also search for this author inPubMed Google Scholar * David O


Hakanson View author publications You can also search for this author inPubMed Google Scholar * Irwin E Redlener View author publications You can also search for this author inPubMed Google


Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Gardner, L., Lanman, J., Hakanson, D. _et al._ 717 TRISOMY 20 MOSAICISM IN AMNIOCYTES WITH


DELIVERY OF INFANT NORMAL SAVE FOR PUNCHED-OUT SCALP LESION. _Pediatr Res_ 15 (Suppl 4), 561 (1981). https://doi.org/10.1203/00006450-198104001-00740 Download citation * Issue Date: 01 April


1981 * DOI: https://doi.org/10.1203/00006450-198104001-00740 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a


shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative