Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

Hei, Mingyan; Gao, Xiangyu; Wu, Lingqian

doi:10.1186/s12887-018-1004-3

BMC Pediatrics

Table 3 Skeletal, heart and genital abnormalities in CdLS patients (Total n = 20)

From: Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

No.	Gender	Karyotype	Extremity bones	ECHO	Genitals
1	Male	46, XY	No fourth finger on both hands	Normal	Bilateral crytorchidism & micropenis
2	Female	46, XX	Normal	Normal	Normal
3	Female	46, XX	Phalanx deletion of the fifth finger of both hands.	Normal	Normal
4	Male	46, XY	Normal	Normal	Right crytorchidism.
5	Female	46, XX	Phalanx deletion of the fifth finger of both hands.	Dilation of pulmonary artery.	Normal
6	Male	46, XY	Phalanx deletion of the fifth finger of both hands. Syndactyly of the second and third toes of both feet.	Normal	Normal
7	Male	46, XY	Normal	Normal	Bilateral crytorchidism.
8	Female	46, XX	Normal	Normal	Normal
9	Female	46, XX	No fourth finger on right hand. Phalanx deletion of the fifth finger of both hands.	VSD	Normal
10	Male	46, XY	Incurvation of the fifth finger of both hands. Syndactyly of the second and third toes of right foot.	Normal	Bilateral crytorchidism.
11	Female	46, XX	Normal	VSD,ASD	Gynandromorphous genitals.
12	Male	46, XY	No fourth finger on right hand.	Patent oval foramen (3 mm)	Bilateral crytorchidism. Hypospadias
13	Male	46, XY	Normal	Tiny arteriovenous fistula.	Uneven testicle size.
14	Female	46, XX	Normal	Normal	Normal
15	Female	46, XX	Phalanx deletion of the fifth finger of both	Patent oval foramen	Normal
16	Female	46, XX	Normal.	Patent oval foramen	Normal
17	Female	46, XX	Phalanx deletion of the fifth finger of both hands.	PDA (1.5 mm)	Immature
18	Female	46, XX	Phalanx deletion of the fifth finger of both hands.	Patent oval foramen, PDA (1.7 mm)	Normal
19	Male	46, XY	Normal	Normal	Normal
20	Male	46, XY	Phalanx deletion of the fifth finger of both hands.	Normal	hypospadias

Abbreviations: VSD Ventricular septum defect, ASD Atrial septum defect, PDA Patent ductus arteriosus

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ISSN: 1471-2431

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