We report a 3 month old boy with tetraploidy, found in peripheral blood and skin fibroblast cultures, withseverelydelayedgrowth andneurodevelopment, and with a cleft lip; these findings have not been described before. This report brings to seven the total number of liveborn infants with a 92,XXYY karyotype.Tetraploidy, the existence of four complete sets of chromosomes, has been reported infrequently in liveborn infants. To date, there have been six cases of full tetraploidy published. All these cases have been associated with multiple congenital defects and survival varies from hours to 22 months. We present a 3 month old infant with multiple congenital anomalies and tetraploidy.Case report The proband (figure) was the first child of a 19 year old mother and 25 year old father. There was no family history of consanguinity, multiple abortions, congenital malformations, or mental retardation. The mother took medication for headaches during early pregnancy. The patient was delivered vaginally at 37 weeks of gestation, weighing 1900 g.Physical examination showed a small for dates male infant with a flat occiput and short palpebral fissures. The ears were low set and had a rudimentary preauricular appendage on the right. Bilateral coloboma and left cleft lip with complete cleft palate were also evident. There was arachnodactyly of the hands (with low set thumbs) and feet and cutis marmorata of all the skin. He had normal male genitalia.Ultrasound examination showed a normal abdomen with kidneys of normal shape and size, although serum creatinine was raised (around 88 pmol/l).EEG at 19 days was normal. Cerebral ultrasound showed a hypoplastic vermis cerebelli and few fissures. A systolic murmur was present from the early perinatal period, with moderate cyanosis that worsened with crying, but without signs of cardiac insufficiency. Echocardiography confirmed the presence of severe tetralogy of Fallot. With the results of the chromosome studies and with parental consent, we adopted a conservative approach to the cardiopathy. He is growing poorly. CYTOGENETIC STUDIESThe patient's chromosomes were studied in peripheral blood lymphocytes. All of the 200 metaphases

Introducción. Poco se ha estudiado en adolescentes gestantes la fisiología del embarazo con respecto al comportamiento de las adipocitocinas y según el modelo homeostático HOMA-IR (Homeostatic Model Assessment for Insulin Resistance) para evaluar la resistencia a la insulina y su relación con el peso del recién nacido.Objetivo. Determinar posibles correlaciones entre las adipocitocinas leptina y adiponectina, y el HOMA-IR en adolescentes gestantes de 14 a 17 años, el índice de masa corporal en el primer trimestre de gestación y el peso del recién nacido.Materiales y métodos. En las semanas 11 a 14 de gestación, se midieron las variables bioquímicas de la leptina y la adiponectina, así como de la glucemia y la insulina, y se calculó el puntaje del HOMA-IR. Se obtuvieron los datos sobre las variables antropométricas de las madres y los recién nacidos. En el análisis estadístico se calcularon la correlación de Pearson y el valor de p. Resultados. Se evidenció una correlación positiva entre los niveles séricos de la leptina y el HOMA-IR en el primer trimestre de gestación (r=0,5; p≤0,000) y una negativa entre la adiponectina y el HOMAIR (r=-0,4; p=0,017), además de correlaciones positivas del índice de masa corporal con la leptina, la insulina y el HOMA-IR (r=0,83 y p<0,000; r=0,56 y p=<0.000, y r=0,54 y p≤0,000, respectivamente). En madres adolescentes sin obesidad ni antecedentes de dislipidemia, se registró una correlación positiva entre la evaluación HOMA-IR y el peso neonatal (r=0,43; p=0,012).Conclusiones. La leptina y el HOMA-IR presentaron una correlación positiva, y la adiponectina y el HOMA-IR, una negativa. La leptina y el HOMA-IR se correlacionaron de manera positiva con el IMC. El HOMA-IR se correlacionó con el peso de los recién nacidos de adolescentes sin obesidad ni dislipidemia.

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