Table 2. Open in new tab Diagnostic...

References

Selection criteria

Diagnostic yield

Short stature genes/microdeletion/duplication region

Zahnleiter et al (54)

200

Idiopathic short stature—sporadic in 92 and familial in 108

10%

PAX3, POMC, GCKR, 22q11, 3q29, 1q21, 2q33, 1p36, and 1q21

Canton et al (55)

Born SGA with short stature present at ≥ 4 years. One of intellectual disability, developmental delay, or dysmorphic features

16%

22q11, 10q26, GAB1, IGFBP2, CSNK2A1, CHD8, GALNS, MIR421

Wit et al (56)

Born SGA with short stature present at ≥ 3 years

16%

mUPD7, mUPD14, SHOX, 15q26, 22q11, 2q31, 7p21, 8q24

Van Duyvenvoorde et al (57)

162

Short stature of unknown origin both normal size and small at birth included

12%

SHOX, IGF1R, 15q26, 7q3, 1q44

Hu et al (58)

119

Idiopathic short stature. SGA children excluded.

22q11, 4q11, 4q12, Yp11

Homma et al (59)

229

Short stature with dysmorphic features and developmental delay

14%

1p36, 2p15, 2q31.1, Wolf–Hirschhorn syndrome, 12q14, Temple syndrome, 15q11, Smith–Magenis syndrome, NF1 deletion syndrome, Miller–Dieker syndrome, 22q11 deletion, SHOX

Hars-Isono et al (17)

Short stature aged ≥ 2 years. Born SGA

1q21, 22q11, Xp22.33, 19p13.12, 5q35, 10q36

Table 2.

Open in new tab

Diagnostic yield in copy number variant analysis studies of short stature patients

References	n	Selection criteria	Diagnostic yield	Short stature genes/microdeletion/duplication region
Zahnleiter et al (54)	200	Idiopathic short stature—sporadic in 92 and familial in 108	10%	PAX3, POMC, GCKR, 22q11, 3q29, 1q21, 2q33, 1p36, and 1q21
Canton et al (55)	51	Born SGA with short stature present at ≥ 4 years. One of intellectual disability, developmental delay, or dysmorphic features	16%	22q11, 10q26, GAB1, IGFBP2, CSNK2A1, CHD8, GALNS, MIR421
Wit et al (56)	49	Born SGA with short stature present at ≥ 3 years	16%	mUPD7, mUPD14, SHOX, 15q26, 22q11, 2q31, 7p21, 8q24
Van Duyvenvoorde et al (57)	162	Short stature of unknown origin both normal size and small at birth included	12%	SHOX, IGF1R, 15q26, 7q3, 1q44
Hu et al (58)	119	Idiopathic short stature. SGA children excluded.	4%	22q11, 4q11, 4q12, Yp11
Homma et al (59)	229	Short stature with dysmorphic features and developmental delay	14%	1p36, 2p15, 2q31.1, Wolf–Hirschhorn syndrome, 12q14, Temple syndrome, 15q11, Smith–Magenis syndrome, NF1 deletion syndrome, Miller–Dieker syndrome, 22q11 deletion, SHOX
Hars-Isono et al (17)	86	Short stature aged ≥ 2 years. Born SGA	9%	1q21, 22q11, Xp22.33, 19p13.12, 5q35, 10q36

References	n	Selection criteria	Diagnostic yield	Short stature genes/microdeletion/duplication region
Zahnleiter et al (54)	200	Idiopathic short stature—sporadic in 92 and familial in 108	10%	PAX3, POMC, GCKR, 22q11, 3q29, 1q21, 2q33, 1p36, and 1q21
Canton et al (55)	51	Born SGA with short stature present at ≥ 4 years. One of intellectual disability, developmental delay, or dysmorphic features	16%	22q11, 10q26, GAB1, IGFBP2, CSNK2A1, CHD8, GALNS, MIR421
Wit et al (56)	49	Born SGA with short stature present at ≥ 3 years	16%	mUPD7, mUPD14, SHOX, 15q26, 22q11, 2q31, 7p21, 8q24
Van Duyvenvoorde et al (57)	162	Short stature of unknown origin both normal size and small at birth included	12%	SHOX, IGF1R, 15q26, 7q3, 1q44
Hu et al (58)	119	Idiopathic short stature. SGA children excluded.	4%	22q11, 4q11, 4q12, Yp11
Homma et al (59)	229	Short stature with dysmorphic features and developmental delay	14%	1p36, 2p15, 2q31.1, Wolf–Hirschhorn syndrome, 12q14, Temple syndrome, 15q11, Smith–Magenis syndrome, NF1 deletion syndrome, Miller–Dieker syndrome, 22q11 deletion, SHOX
Hars-Isono et al (17)	86	Short stature aged ≥ 2 years. Born SGA	9%	1q21, 22q11, Xp22.33, 19p13.12, 5q35, 10q36

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