A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features

A Türkyılmaz; O Yaralı

doi:10.2478/bjmg-2020-0009

Figures & Tables

The patient’s pictures at the age of 8 months. (written informed consent was obtained from the patient’s parents for publication of proband’s)

The patient’s karyotype: 46,XX,add(16)(q24).

Result of 315k Affymetrix CyctoScan Optima array of chromosome 16. Enlargement of aCGH results on chromosome 16 show gain of 16ql2.1q23.3 corresponding to 29.8 Mb of DNA. X-axis corresponds to the genomic position in megabases of DNA and Y-axis show the log 2 ratio of signal intensity.

Clinical features of previously reported pure partial trisomy 16q cases in the literature and in our patient_

Partial 16q trisomy region	Prx. D. 16q11.1-q13	Prx. D. 16q11.2-q12.2	Prx. D. 16q11.2-q12.1	Prx. D. 16q11.2-q13	Prx.D. 16q 12.1-q13	Prx-Inter. D. 16q11.2-q22.1	Prx-Inter. D. 16q11.2-q22.3	Prx-Inter. D. 16q12.1-q21	Prx-Inter. D. 16q13-q22.3	Prx-Inter. D. 16q12.1-q22.1	Inter-Dis. D. 16q22.1-q23.1	Inter-Dis. D. 16q13-q24	Prx-Dis. D. 16q12.1-q23.3
Methodology for genetic analysis	Conv. Cyto./ FISH	Conv. Cyto./ FISH	Conv. Cyto./ FISH	Conv. Cyto./ FISH	Conv. Cyto./ FISH	SNP-aCHG (45,086,927- 71,261,259) 26.17 Mb	Oligonu-cleotide aCGH 22.5 Mb	Oligonucleo-tide aCGH (50,843,158-60,770,795) 9.92 Mb	Conv. Cyto.	aCGH 19.8 Mb	Conv. Cyto./ FISH	Conv. Cyto.	aCGH (52,459,169- 82,285,105) 29.8 Mb
References	[5]	[6]	[6]	[6]	[7]	[1]	[8]	[2]	[9]	[3]	[10]	[11]	this study
Gender	F	M	M;M;M;M	M;M;F	M	F	F	F	F	F	M	F	F
Age (years)	3	5	5.3;3;32;32	9.5;5;39	NR	2	5	3.5	26	7	10	0	0
Growth retardation	[–]	[–]	NR	2/3	NR	[–]	[–]	[–]	[+]	[+]	[+]	NR	[+]
Intellectual disability	[+]	[+]	3/2	3/3	RN	[+]	[+]	[+]	[+]	[+]	[+]	NR	[+]
Micro-cephaly	[–]	NR	NR	[–]	NR	[–]	[+]	[–]	[–]	[–]	[–]	NR	[+]
Behavioral problems	[+]	[+]	NR	2/3	NR	NR	[+]	[+]	[+]	NR	[+]	NR	NR
Epilepsy	[-]	NR	NR	NR	NR	[–]	[–]	[–]	NR	[+]	[+]	NR	[–]
Speech delay	[+]	[+]	2/4	2/3	NR	[+]	[–]	[+]	[+]	NR	[+]	NR	[+]
Obesity	[-]	[+]	NR	3/3	NR	[–]	[+]	[+]	NR	NR	NR	NR	[–]
Dysmorphic features	[+]	[+]	NR	[–]	NR	[+]	[+]	[+]	[+]	[+]	NR	[+]	[+]
Ear anomalies	[+]	NR	NR	NR	NR	[+]	NR	[+]	[–]	[–]	[+]	NR	[+]
Eye anomalies	[-]	[+]	NR	2/3	NR	[+]	[+]	[+]	[–]	[+]	[–]	NR	[+]
Skeletal anomalies	[+]	[+]	NR	3/3	NR	[+]	[–]	[+]	[+]	NR	[+]	[+]	[–]
Heart defects	[-]	[+]	[–]	[–]	NR	[+]	[–]	[–]	NR	[–]	[–]	[+]	[–]
Urogenital anomalies	[-]	NR	NR	NR	NR	[–]	[–]	[–]	NR	[–]	[–]	[+]	[–]
CNV anomalies	[-]	NR	NR	NR	NR	[–]	[–]	[–]	NR	[+]	[+]	NR	[–]

A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features

Figures & Tables

Figure 1

Figure 2

Figure 3

Clinical features of previously reported pure partial trisomy 16q cases in the literature and in our patient_

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