A Girl with Tall Stature-Is She Normal or Abnormal?

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Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

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Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to n...

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Tall stature: a difficult diagnosis?

Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tall stature show a familial tall stature or a constitutional advance of growth (CAG), which is a diagnosis of exclusion. After a careful physical evaluation, tall subjects may be divided int...

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balanced reciprocal translocation t(x;1) in a girl with tall stature and primary amenorrhea

abstract chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. although x-autosome translocations are frequently associated with streak gonads and clinical features of the turner syndrome, the majority of x-autosome carriers may present with a variable phenotype, developmental delay, and recognizable x-linked syndrome...

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A girl with short stature and dysmorphism

Case presentation A 5-year-9month old Chinese girl presented with severe growth retardation, height SDS -4.17 and body weight SDS -2.37. The mid-parental height was 151.2cm (3-10 centile). She was born small for gestational age with no catch-up growth. Congenital anomalies including right dysplastic kidney and large secundum atrial septal defect were present. She had delayed development with mi...

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ژورنال

عنوان ژورنال: Clinical Pediatric Endocrinology

سال: 1994

ISSN: 0918-5739,1347-7358

DOI: 10.1297/cpe.3.supple4_199