Turner syndrome associated with Down syndrome: about a case / Síndrome Turner asociado a síndrome Down: a propósito de un caso

The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the study was to report a case with monosomy of the X chromosome and trisomy of chromosome 21, in mosaic variety, highlighting the phenotypic effect that the presence of different chromosomal abnormalities can produce and compare with those reported in the literature. A 10-year-old Ecuadorian female, born to a multipregnant mother with 46 years at conception, is seen in consultation with a predominant clinical phenotype of Down syndrome, associated with menarche, presence of pubic and axillary villu, where a karyotype is verified 45 X[7]/47XX+ 21 [3]/46, X, der (X)(: p11.1-> q11.1)[1]/46,XX [1]. The present case is a double Turner-Down aneuploidy, with predominantly X monosomy cell line, who shows important mental retardation and some signs of puberal development not usually in Turner syndrome. These features highlight the clinical importance of doing a karyotype in mental retardation cases and searching low mosaics of another aneuploidies in atypical cases. Its complex chromosomal formula and support with molecular cytogenetics allowed diagnostic confirmation and genetic counseling.

La coexistencia de doble aneuploidía de los síndromes de Down y Turner es rara; la mayoría de los casos se han debido a dobles errores mitóticos. Reportar un caso con trisomía del cromosoma 21 y monosomía del cromosoma en X, en variedad mosaico, que curiosamente presenta un despertar puberal precoz y comparar con los reportados en la literatura. Paciente ecuatoriana de sexo femenino, de 10 años de edad, nacida de madre multigesta con 46 años a la concepción, que es vista en consulta con fenotipo clínico predominante de Síndrome Down, asociado a menarquia y telarquia, donde se constata un cariotipo. El presente caso es el primero informado de mosaicismo de doble aneuploidía de Turner-Down asociado con un despertar puberal precoz. Su fórmula cromosómica compleja y el apoyo con la citogenética molecular permitió la confirmación diagnostica y la asesoría genética.

A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases

@#Individuals with double aneuploidy of Down-Turner syndrome are very rare and to date, fewer than 50 cases have been reported, worlwide. We report a case of a male infant who presented with dysmorphic features of upslanting eyes, flat nasal bridge, wide spaced nipples and macroglossia. Based on the clinical features, he was diagnosed with Down syndrome. His peripheral blood sample was taken and sent for cytogenetic analysis for confirmation. Chromosome analysis of his lymphocyte cell culture revealed a mosaic pattern of double aneuploidy with monosomy X identified in 31 metaphases and trisomy 21 in 14 metaphases: (45,X[31]/47,XY,+21[14]). Further analysis with fluorescence in situ hybridization (FISH) using Vysis LSI SRY Spectrum Orange/CEP X Spectrum Green Probe and Vysis CEP Y Spectrum Aqua Probe and Vysis LSI 21 Spectrum Orange Probe performed on the cells (nuclei and metaphases) has confirmed the presence of the abnormal two cell lines (81% monosomy X and 19% trisomy 21) in the patient. Ultrasound investigations of his pelvic region showed normal testes and no evidence of uterus, ovary or vagina. To the best of our knowledge, this is the first Down-Turner syndrome reported in Malaysia. In conclusion, this case demonstrates the importance of Giemsa-banded karyotype and FISH analyses as diagnostic tools in identifying the chromosomal abnormality and determining the ratio of the normal:abnormal cells present in the patient. An annotated bibliography of earlier reported cases of Down-Turner with documented karyotyping is also included in this report.

Doble aneuploidía: síndromes de Klinefelter y Edwards (48, XXY, +18). Reporte de caso / Double aneuploidy: Klinefelter and Edwards syndromes (48, XXY, +18). Case report

La existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards.

The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.

Doble Aneuploidia (Trisomia 21 Y XXY): Reporte de caso de Sindrome Down-Klinefelter con delecion (XP)(P11.3-Pter) heredada / Double aneuploidy (trisomy 21 and XXY): case report of Down-Klinefelter síndrome with inherited deletion (XP)(p11.3-pter)

En los síndromes Down (SD) y Klinefelter (SK) independientes entre si, ambas aneuploidías cromosómicas son causadas por exceso. La ocurrencia de estas dos alteraciones en un individuo es un fenómeno relativamente raro. En casos de doble aneuploidiìa donde están involucrados autosomas y cromosomas sexuales, predominan las manifestaciones clínicas relacionadas con los autosomas y se solapan las de cromosomas sexuales. Caso clínico: se trata de un paciente de dos anÞos de edad, con signos sugerentes de SD, producto del tercer embarazo de una madre de 32 anÞos. Examen físico: braquicefalia, perfil plano, hipertelorismo, desviación de las hendiduras palpebrales, orejas de baja implantación, prominencia de la sutura metópica, paladar alto y estrecho, cuello corto, diaìstasis de músculos rectos anteriores, hernia umbilical, braquidactilia, línea de Sydney en mano derecha, micro pene, hipotonía moderada. El estudio citogenético evidencio una formula cromosómica 48,XXY,+21,der(X) para el caso y 46,XX,del(Xp)(p11.3-pter) en la madre. Con esto se logró precisar una correlación genotipo-fenotipo que nos confirma el diagnóstico de síndrome Down-Klinefelter con deleción p11.3-pter de cromosoma X heredado de la madre. Las manifestaciones fenotípicas del SK solapadas por una aneuploidiìa autosómica deben evaluarse detenidamente en la pubertad.

In Down Syndrome (DS) and Klinefelter Syndrome (KS) independent of one another, both chromosome aneuploidies are caused by excess. The occurrence of these alterations in one individual is a relatively rare phenomenon. In cases of double aneuploidy in which autosomes and sex chromosomes are involved, the predominant clinical manifestations are related to autosomes and the alterations due to sex chromosomes overlap. Clinical case: The patient is a two year old boy, with signs suggestive of DS, product of the third pregnancy of a mother of 32 years of age. Physical exam: brachycephaly, flat facial profile, hypertelorism, upslanting palpebral fissures, low-set ears, prominent metopic suture, high and narrow palate, short neck, diastasis recti, umbilical hernia, brachydactyly, Sydney line in the right hand, micro pennies, moderate hypotonia. The cytogenetic study revealed a chromosomal formula 48,XXY,+21,der(X) in the case and 46,XX,del(Xp)(pter-p11.3) in the mother, which specifies a genotype-phenotype correlation and confirms the diagnosis of Down- Klinefelter Syndrome with deletion p11.3-pter of X chromosome inherited from the mother. The phenotypic manifestations of KS overlapped by an autosomal aneuploidy should be carefully assessed at puberty.

Mosaic double aneuploidy: Down syndrome and XYY.

Chromosomal abnormalities are seen in nearly 1% of live born infants. We report a 5‑year‑old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. The karyotype was 47, XY,+21[19]/48, XYY,+21[6]. ish XYY (DXZ1 × 1, DYZ1 × 2). Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. This will enable early intervention to provide the adequate supportive care and management.

Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review / 대한진단검사의학회지

We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.