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

Present case

1

18

Xq21.31-qter

Short stature, Non verbal learning disability, mild dismorphyc features, premature ovarian insufficiency

Yes, 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 ratio

Non specified

Xq21q24/Xq26qter/MECP2 duplication

Short stature, developmental delay, facial dysmorphism, gonadal dysgenesis, body asymmetry

Yes, non specified

None

Bijlma EK et al. (2012) [2]

5

3 girls, 2 adults

Xq28

Mild to moderate mental retardation, combined with variable symptoms (autistic features, recurrent infections in early childhood, constipation, and late-onset neurological features). Variables dysmorphic features

No

None

Chen CP et al. (2011) [3]

1

Adult

Xq22.1-q24

Psychomotor retardation, developmental delay, mental retardation, short stature, general muscle hypotonia, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea

Yes, POF defined by FSH and estradiolo values

None

Donnelly DE et al. (2011) [4]

1

3 year old

Xq22.3-q26

Developmental delay, slow growth, hypotonia, mild dysmorphic features (elongated face, almond shaped eyes, epicantihyc fods, broad nasal tips)

No

None

Tachdjian G et al. (2004) [5]

1

Fetus, newborn

Xq21.1-q25

Intrauterine growth retardation, SGA, hypotonia, feeding problems, poor language

No

None

Lachlan KL et al. (2004) [6]

1 female

Fetus, newborn

Xq27.1-qter

SGA, hypotonia, feeding problems, small mouth and chin, growth failure

No

None

Armostrong L et al. (2003) [7]

1

Newborn, child

Xq22.3-q26

SGA, feeding problems, variables dismorphyc features, developmental delay, mild scoliosis, short stature

No

None

Tihy F et al. (1999) [8]

1

Newborn

Xq22.1-q25

SGA, moderate psychomotor retardation, right hemiatrophy, mild scoliosis.

No

None

Correa-Cerro L et al. (1999) [9]

1

20 years old

Xq22-q23

Short 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]

1

24 years old

Xq23-q25

Hypotonia and low weight at birth, developmental delay, compulsive behaviour, obesity, short stature, speech articulation defect, irregular menses.

No

None

Garcia-Heras J et al. (1997) [11]

1

3 year old

Xq23-q26

Growth retardation, developmental and speech delay and minor anomalies

No

None

Aughton DJ et al. (1993) [12]

1

Fetus, newborn, child

Xq13-qter

SGA, growth retardation, mild hypotonia, seizures, minor anomalies

No

None

Van Dyke et al. (1983) [13]

1

40 years old

Xq13.3–27.3

Short stature, secondary amenorrhea, and gonadal dysgenesis.

Yes, POF defined by gonadotropins values.

None

Yi Z et al. (2016) [14]

1

Child

Xq28

Developmental and speech delay, intellectual disability, feeding difficulties, seizures, recurrent infection (with fatal infection before 25 years old)

No

None

Carrozzo R et al. (1997) [15]

1

Child

Xq21.32-q24

Short stature, hypomyelination, hypotonia, ocular albinism, mild dismorphisms.

No

None

Volleth M et al. (2001) [16]

1

Adult

Xq23-q28

Dysmorphic features (simian creases, epicanthal folds, broad nasal root, retrognathia, ptosis, wide-spaced nipples), developmental delay and mental retardation. Short stature

No

None

El Chehadeh S et al. (2017) [17]

6

Variable

Xq28

Mild 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 dysmorphism

No

None

Maurin ML et al. (2017) [18]

1

Fetus, newborn

Xq21.33 microduplication

Normal phenotype

No

None

Rajangam S et al. (1999) [19]

NA

NA

NA

NA

NA

NA