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Table 1 Previously published cases of Xq duplication in female (1983-present)

From: A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review

AuthorsN.female patientsAge of patients (diagnosis and follow up)Xq duplicated regionClinical featuresReporting of impaired fertility status and diagnostic criteriaFertility and short stature treatment
Present case118Xq21.31-qterShort stature, Non verbal learning disability, mild dismorphyc features, premature ovarian insufficiencyYes, POF defined by hornmonal (estrogens and AMH) and ultrasound criteria.rGH theraphy and fertility preservation strategies.
Sanlaville D et al. (2009) [1]Total 80, not known M/F ratioNon specifiedXq21q24/Xq26qter/MECP2 duplicationShort stature, developmental delay, facial dysmorphism, gonadal dysgenesis, body asymmetryYes, non specifiedNone
Bijlma EK et al. (2012) [2]53 girls, 2 adultsXq28Mild to moderate mental retardation, combined with variable symptoms (autistic features, recurrent infections in early childhood, constipation, and late-onset neurological features). Variables dysmorphic featuresNoNone
Chen CP et al. (2011) [3]1AdultXq22.1-q24Psychomotor retardation, developmental delay, mental retardation, short stature, general muscle hypotonia, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrheaYes, POF defined by FSH and estradiolo valuesNone
Donnelly DE et al. (2011) [4]13 year oldXq22.3-q26Developmental delay, slow growth, hypotonia, mild dysmorphic features (elongated face, almond shaped eyes, epicantihyc fods, broad nasal tips)NoNone
Tachdjian G et al. (2004) [5]1Fetus, newbornXq21.1-q25Intrauterine growth retardation, SGA, hypotonia, feeding problems, poor languageNoNone
Lachlan KL et al. (2004) [6]1 femaleFetus, newbornXq27.1-qterSGA, hypotonia, feeding problems, small mouth and chin, growth failureNoNone
Armostrong L et al. (2003) [7]1Newborn, childXq22.3-q26SGA, feeding problems, variables dismorphyc features, developmental delay, mild scoliosis, short statureNoNone
Tihy F et al. (1999) [8]1NewbornXq22.1-q25SGA, moderate psychomotor retardation, right hemiatrophy, mild scoliosis.NoNone
Correa-Cerro L et al. (1999) [9]120 years oldXq22-q23Short stature, gonadal dysgenesis with secondary amenorrea.Yes, POF defined by gonadotropins and estrogens values. Streak gonads in laparoscopy.None
Monaghan KG et al. (1998) [10]124 years oldXq23-q25Hypotonia and low weight at birth, developmental delay, compulsive behaviour, obesity, short stature, speech articulation defect, irregular menses.NoNone
Garcia-Heras J et al. (1997) [11]13 year oldXq23-q26Growth retardation, developmental and speech delay and minor anomaliesNoNone
Aughton DJ et al. (1993) [12]1Fetus, newborn, childXq13-qterSGA, growth retardation, mild hypotonia, seizures, minor anomaliesNoNone
Van Dyke et al. (1983) [13]140 years oldXq13.3–27.3Short stature, secondary amenorrhea, and gonadal dysgenesis.Yes, POF defined by gonadotropins values.None
Yi Z et al. (2016) [14]1ChildXq28Developmental and speech delay, intellectual disability, feeding difficulties, seizures, recurrent infection (with fatal infection before 25 years old)NoNone
Carrozzo R et al. (1997) [15]1ChildXq21.32-q24Short stature, hypomyelination, hypotonia, ocular albinism, mild dismorphisms.NoNone
Volleth M et al. (2001) [16]1AdultXq23-q28Dysmorphic features (simian creases, epicanthal folds, broad nasal root, retrognathia, ptosis, wide-spaced nipples), developmental delay and mental retardation. Short statureNoNone
El Chehadeh S et al. (2017) [17]6VariableXq28Mild to moderate intellectual deficiency and no obvious dysmorphic features. Eccept one of them with a moderate to severe phenotype including very poor language, drug-resistant epilepsy, chronic constipation, stereotyped movements, behavioural disorders, recurrent infections and facial dysmorphismNoNone
Maurin ML et al. (2017) [18]1Fetus, newbornXq21.33 microduplicationNormal phenotypeNoNone
Rajangam S et al. (1999) [19]NANANANANANA
  1. NA not available