Table of Contents

HK J Paediatr (New Series)
Vol 19. No. 1, 2014

HK J Paediatr (New Series) 2014;19:37-40

Case Report

Tetrasomy X in a Child with Multiple Abnormalities: Case Report and Literature Review from China

WY Xiong, ZY Jiang, CC Zou


Polysomy of the X chromosome is a very rare disorder, and little information is available in the literature. Tetrasomy X was first reported in 1961 and only approximately 60 cases have been reported. Herein, we reported a 5-year-old girl with tetrasomy X, who presented to our clinics because of "short stature". She was born to a G2P2 mother at 39 weeks of gestation with a birth weight of 3.5 kg. She started walking at 16 months of age, and speaking at 18 months. She had syndactyly in both hands and patent ductus arteriosus (0.7 cm), which were corrected by surgery soon after birth and at 7 months of age, respectively. She also had a history of epilepsy for 3 years with 4 episodes of convulsion but none in the past two years, and depakine was administered till now. She was apt to get pneumonia. She was 105 cm in height and 13 kg in weight, showing a coarse face with ocular hypertelorism and epicanthus. She presented with female external genitalia with Tanner I breast and external genitalia development. Her pelvic ultrasound showed immature uterus and ovarian. Intelligence quotient test revealed low intellectual functioning (IQ: 51). Cytogenetic investigation revealed a karyotype of 48,XXXX. These data showed that in females with intellectual disabilities, abnormal height, microcephaly, skeletal and limb anomalies, and congenital heart defects, 48,XXXX karyotype should be considered although it is an extremely rare entity.

X染色體多體是非常罕見的疾病,文獻中只有少數相關的資料。四體綜合症於1961年首次報告,至今只有約60例經報告。在此,我們報告一名5歲的四體綜合症女患兒,因為「矮小」在我們的門診部就診。她是G2P2,39週足月兒,出生體重3.5kg。她16個月開始走路,18個月開始說話。她的雙手并指畸形,伴有動脈導管未閉(0.7 cm),分別在生後不久及7個月大時進行手術治療。她也有腦癎病史,在3歲時出現4次抽搐,但最近2年無再發作,患童現在用德巴金治療,容易肺部感染。身高105 cm,體重13 kg,面容粗糙,眼距增寬,內眦贅皮。她表現為女性外生殖器,伴有端納(Tanner)分期1期的乳房及外生殖器。盤腔超聲波檢查見未成熟的子宮及卵巢。智商測試發現智力低下(IQ:51)。細胞遺傳學分析發現核型為48,XXXX。這些資料提示患兒有智力低下,身高異常,小頭畸形,骨骼及肢體異常,雖然此疾病極為罕見,有先天性心臟病的女性患者,須考慮48,XXXX核型檢測。

Keyword : 48,XXXX; Intellectual disabilities; Malformation; Sex chromosomal disease; Tetrasomy X



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