A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)

A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal hyperplasia was referred. Previous sonograph, cytogenetics, and metabolic profile were inconclusive, therefore we performed an additional karyotype and a mo...

Descripción completa

Detalles Bibliográficos
Autores principales: Romero, V. I., Pozo, J. C., Saenz, S., Llamos-Paneque, A., Liehr, T., Hosomichi, K., Tajima, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519037/
https://www.ncbi.nlm.nih.gov/pubmed/33062287
http://dx.doi.org/10.1038/s41439-020-00113-x
_version_ 1783587497066889216
author Romero, V. I.
Pozo, J. C.
Saenz, S.
Llamos-Paneque, A.
Liehr, T.
Hosomichi, K.
Tajima, A.
author_facet Romero, V. I.
Pozo, J. C.
Saenz, S.
Llamos-Paneque, A.
Liehr, T.
Hosomichi, K.
Tajima, A.
author_sort Romero, V. I.
collection PubMed
description A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal hyperplasia was referred. Previous sonograph, cytogenetics, and metabolic profile were inconclusive, therefore we performed an additional karyotype and a molecular cytogenetics studies. A mosaic karyotype 45,X/46,X,der(Y)t(Y;14) was characterized in peripheral blood. Congenital adrenal hyperplasia genes were sequenced and the results were negative. The ambiguous genitalia was the result of the special gonosomal mosaicism. The low level of trisomy 14 led to minor physical characteristics and mild mental retardation; also, Turner syndrome features can be expected rather than severe trisomy 14 stigmata.
format Online
Article
Text
id pubmed-7519037
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-75190372020-10-14 A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14) Romero, V. I. Pozo, J. C. Saenz, S. Llamos-Paneque, A. Liehr, T. Hosomichi, K. Tajima, A. Hum Genome Var Data Report A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal hyperplasia was referred. Previous sonograph, cytogenetics, and metabolic profile were inconclusive, therefore we performed an additional karyotype and a molecular cytogenetics studies. A mosaic karyotype 45,X/46,X,der(Y)t(Y;14) was characterized in peripheral blood. Congenital adrenal hyperplasia genes were sequenced and the results were negative. The ambiguous genitalia was the result of the special gonosomal mosaicism. The low level of trisomy 14 led to minor physical characteristics and mild mental retardation; also, Turner syndrome features can be expected rather than severe trisomy 14 stigmata. Nature Publishing Group UK 2020-09-25 /pmc/articles/PMC7519037/ /pubmed/33062287 http://dx.doi.org/10.1038/s41439-020-00113-x Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Romero, V. I.
Pozo, J. C.
Saenz, S.
Llamos-Paneque, A.
Liehr, T.
Hosomichi, K.
Tajima, A.
A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
title A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
title_full A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
title_fullStr A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
title_full_unstemmed A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
title_short A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
title_sort toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(y)t(y;14)
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519037/
https://www.ncbi.nlm.nih.gov/pubmed/33062287
http://dx.doi.org/10.1038/s41439-020-00113-x
work_keys_str_mv AT romerovi atoddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT pozojc atoddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT saenzs atoddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT llamospanequea atoddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT liehrt atoddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT hosomichik atoddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT tajimaa atoddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT romerovi toddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT pozojc toddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT saenzs toddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT llamospanequea toddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT liehrt toddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT hosomichik toddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14
AT tajimaa toddlerwithphylloidtypepigmentarymosaicismandambiguousgenitaliaresultingfromtrisomy14inducedbyaderyty14

Ejemplares similares