Table 1 Summary of genotype-phenotype correlation on the affected region of 4q32

Sarda P et al.,1992 [17]

18 Month/F

del(4)(q3l .22q34.2)

–

A cardiac defect, duplication of left kidney, skeletal abnormal, postnatal growth failure.

Aladhami S M S et al.,2000 [18]

12 Year/M

29 Year/F

del(4)(q32q33)

–

A 12-year-old boy showed mild dysmorphic features, late presentation of learning difficulties and behaviour problems, obesity, breast hypertrophy and bilateral slip-ped capital femoral epiphysis. His mother also has mild dysmorphic features, obesity, and a similar history of late presentation of learning difficulties and behaviour problems.

Keeling S L et al., 2001 [19]

An infant

del(4)(q32q34)

–

Mild developmental delay; a left ulnar ray defect with absent ulna and associated metacarpals, carpals and phalanges; and a right ulnar nerve hypoplasia.

Ramanathan et al., 2004 [20]

11 Year/M

del(4)(q32q34)

–

Early developmental delay and minor dysmorphic features.

Kaalund et al., 2008 [21]

7 Year/M

del(4)(q32.1q34.3)

–

Respiratory problems, developmental delay, learning difficulties, bilateral ptosis, low set ears and anteverted nares, prominent cheeks, micrognathia, small and open mouth, macroglossia, and teeth abnormalities.

Tzschach A et al., 2010 [22]

22 Year/F

4q32.1q32.3

10 Mb

Mild to moderate mental retardation, psychosis, obesity, broad nasal root, sparse lateral eyebrows, thin upper lip, short philtrum, micrognathia, and strabismus.

Ismail S et al.,2012 [13]

6 Month/M

del(4)(q31q32)

–

Congenital heart disease and clenched hands.

Strehle E M et al., 2012 [11]

13 Year/M

Chr4:16407495–188987971

24.9 Mb

Facial asymmetry, glabellar hemangioma, prominent nasal root with hypoplastic alae, short nose with anteverted nares, overfolded ear helices, flat philtrum, cleft soft palate, dental crowding, fine long hair under chin.

Strehle E M et al., 2012 [11]

4 Year/F

Chr4:164807106–190490075

25.7 Mb

Hypoplastic supraorbital ridges, large fontanelles, upslanting and shortpalpebral fissures, hypertelorism, glabellar hemangioma, overfolded

ear helix, microstomia and micrognathia.

Strehle E M et al., 2012 [11]

5 Year/F

Deletion:166719262–4qter; Duplication:705175–20pter

24.6 Mb

Increased fetal nuchal translucency, microcephaly, broad nasal bridge, full cheeks, absent lower incisors, cleft palate, micrognathia.

Strehle E M et al., 2012 [11]

2 Year/F

166860495–4qter

24.5 Mb

Epicanthic folds, upturned nose, receding chin.

Xu W et al.,2012 [23]

8 Month/−

del(4)(q32.3q34.2)

Chr4:167236114–178816031

11.6 Mb

Congenital heart defect.

Tidrenczel Z et al., 2019 [9]

A Fetus/M

del(4)(q32.1q35.2)

Chr4:157455107–190957460

33.5 Mb

High-risk combined screening test results and second trimester ultra-sound soft markers.

Present Case

31 Year/F and her child

del(4)(q32.2q32.3)

Chr4: 162858958-170081268

7.22 Mb

Normal phenotype.