Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes

Table 3 Clinical characteristics of patients with monosomy 3p with different break points and sizes

Reference	Fernandez [22]	Fernandez [23]	Gunnarson [24]	Shuib [25]				Pohjola [26]		Cuoco [27]	Chen [28]	Peltekova [29]	Our study
3p monosomic segment/ Size	p26^a none	p26.2-pter^b 4.5 Mb	p25.3-p26.1^c 1.6 Mb	p25.2-pter 12.65 Mb, 12.25 Mb, 12.05 Mb	p25.3-pter 9.55 Mb to 11.50 Mb	p25.3-p26.1 6.3 Mb	p26.1-pter 8.6 Mb	p25.3-pter 9.0 Mb	p26.3-pter 1.10 Mb	p26.3-pter 0.90 Mb	p25.3-pter 9.3 Mb	p25.3-p25.3 0.643 Mb	p26.3-pter 1.70 Mb
Cytogenetic analysis	K, FISH, SNPa	K, FISH, aCGH	K, SNPa	K, MLPA, SNPa				K, FISH, SNPa, MLPA, SEQ		K, FISH, SNPa,MLPA	K, aCGH, QF-PCR^d	K, FISH, aCGH, Q-PCR	K, FISH HDMA
Number of patients				3	9					2
Origin	de novo	de novo	de novo	de novo	de novo	de novo	de novo	mat^e	mat^f	pat^g	de novo	NR	mat
Gender	M	M	F	NR	NR	NR	NR	M	M	M/M	F	F	M
Age	7y 11 m	5y 6 m	4y	NR	NR	NR	NR	12y	12y	9y/7y	24wg	22y †	2y 8 m
PGD	+	+	-	NR	NR	NR	NR	-	+	0/2	NA	+	+
Hypotonia	+	-	+	NR	NR	NR	NR	+	-	0/2	NA	-	+
Hirsutism	+	-	-	NR	NR	NR	NR	-	-	0/2	NR	-	+
Microcephaly	-	+	+	NR	2/9	+	NR	-	+	0/2	NR	+	-
CNSA	-	-	+	NR	NR	NR	NR	-	-	1/2	-	+	+
Triangular face	-	+	-	NR	NR	NR	NR	-^g	-	0/2	NR	+	+
DSPF	+	+	-	NR	NR	NR	NR	-	-	0/2	NR	+	-
Ptosis	+	-	+	NR	2/9	+	NR	-	-	0/2	NR	+	+
Hypertelorism	+	+	+	NR	NR	NR	NR	-	-	0/2	+	-	+
OEA	+	NR	+	NR	NR	NR	NR	-	-	1/2	NR	+	+
Broad nasal bridge	+	+	+	NR	NR	NR	NR	+	-	0/2	NR	+	+
Hypoplasic nostrils	-	+	-	NR	NR	NR	NR	-	-	0/2	NR	-	-
High or cleft palate	-	+	-	NR	NR	NR	NR	+	-	0/2	NR	+	+
Micrognathia	-	+	-	NR	2/9	NR	NR	-	-	0/2	+	-	+
Dysmorphic ears	+	+	+	NR	NR	NR	NR	+	-	0/2	+	+	+
CHD	-	-	+	3/3	2/9	-	-	-	-	0/2	-	+	-
GTA	-	+	-	NR	NR	NR	NR	-	-	0/2	NR	-	-
Limb abnormalities	+	+	+	NR	NR	NR	NR	+	+	0/2	NR	+	+
PD/MR	BL	+	+	3/3	9/9	+	-	LD	LD	BL/-	NA	+	+
Abnormal Language	+	+	+	NR	NR	NR	NR	+	+	2/2	NA	+	+
Seizures	-	+	+	NR	NR	NR	-	-	-	1/2	NA	+	+

^a: 46,XY,t(3;10)(p26;q26), disruption of CNTN4; ^b: 45,XY,der(3)t(3;13)(p26.2;q12.13),-13; ^c: In vitro fertilization; ^d: amniocentesis and pregnancy interruption; ^e: mother and sister with the same deletion; ^f: mother with the same deletion without clinical data and mildly dysmorphic features; ^g: father with same deletion and no clinical data; ^h: asymmetric face; aCGH: array Comparative Genomic Hybridization; BL: BorderLine; DSPF: Down Slating Palpebral Fissures; F: Female; FISH: Fluorescent in situ hybridization; GTA: Genitourinary Track Anomalies; HDMA: high density microarray; K: Karyotype with banding techniques; LD: Learning Disability; M: Male; m: months; NA: Not Applicable; NR: No Reported; SEQ: sequencing of candidate genes; PD/MR: Psychomotor Delay/Mental Retardation; PGD: Postnatal Growth Delay; QF-PCR: Quantitative Fluorescent-PCR; SNPa: Single Nucleotide Polymorphism array; wg: weeks of gestation; y: years; †: dead at the time of report; +: feature present; -: feature absent.

ISSN: 1755-8794