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

Cervantes, Alicia; García-Delgado, Constanza; Fernández-Ramírez, Fernando; Galaz-Montoya, Carolina; Morales-Jiménez, Ariadna Berenice; Nieto-Martínez, Karem; Gómez-Laguna, Laura; Villa-Morales, Judith; Quintana-Palma, Mónica; Berúmen, Jaime; Kofman, Susana; Morán-Barroso, Verónica F

doi:10.1186/1755-8794-7-55

Table 2 Clinical characteristics of patients with distal trisomy 1q

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

Reference	Chia [8]	Rasmussen [9]				Kennerknecht [10]	Verschuuren-Bemelmans [11]	Concolino [12]	Villa [13]	De Brasi [14]	Emberger [15]	Morava [16]	Polityko [17]	Cocce [18]	Percesepe [19]	Kulikowski [20]	Shin [21]	Our study
1q trisomic segment	q42-qter^a	q41- qter^b	q42-qter^c	q41-qter^d	q42-qter^e	q42-qter^f	q42.1-qter^g	q42.1-qter^h	q44-qterⁱ	q42-q44^j	q41-qter^k	q43	q41-q44^l	q42-q43	q42-qter^m	q41-qterⁿ	q41-qter^o	q41-qter^p
Monosomic region	22 p12-pter	10 q26-qter	13 q34-qter	4 q34-qter	4 q35-qter	15 qter	15p11.1-pter	8 p23.3-pter	1 p12-pter	none	8 p23.3-pter	none	none	none	9 q34.3-qter	13 p12-pter	11 p15.5-pter	3 p26.3-pter
Cytogenetic analysis	K	K	K	K	K	K	K, FISH	K, FISH	K, FISH, PMM	K, FISH	K, FISH	K, FISH	K, FISH, MCB	K,FISH	K, FISH, aCGH	K, FISH	K, FISH, aCGH	K, FISH, HDMA
Origin	mat	pat	mat	pat	mat	pat	pat	de novo	mat	de novo	de novo	de novo	NR	de novo	de novo	de novo	mat	mat
Gender	M	F	F	M	M	M	F/M	F	F	F	F	M	F	F	M	M	M	M
Age	At birth	1 m	21 m	2y	7y 5 m	5y 1 m	22y/21y	6 m	5y	2y 3 m	11y	5y	1y 8 m	4y 9 m	1y	11y	6 m	2y 8 m
PGD	NA	-	+	+	-	+	2/2	-	-	-	+	+	+	+	NR	-	+	+
Macrocephaly	+	+	-^q	+	+	-^q	2/2	+	+	+	+	+	-^q	+	+	+	+	-
Wide fontanelles	+	+	-	+	+	+	+/-	+	-	+	+	NR	NR	NR	+	NR	-	-
CNSA	-	VD, CA	VD,CA	VD	-	-	-/WCM	NR	-	VD	NR	NR	VD	NR	VD	-	NR	VD,SAC
Triangular face	-	-	+	+	-	+	2/2	+	-	+	-	+	NR	+	+	+	+	+
Frontal bossing	+	+	+	+	+	+	2/2	+	+	+	+	+	NR	+	+	+	+	+
T, DS eye brows	+	-	-	+	-	-	2/2	-	-	-	-	NR	+	-	+	-	-	+
DSPF	-	+	+	-	+	-	2/2	+	-	+	+	NR	+	-	+	+	-	-
Ptosis	-	-	+	-	+	-	0/2	-	-	-	-	NR	-	-	+	-	NR	+
Hypertelorism	-	-	+	-	+	-	0/2	-	+	-	-	+	+	+	NR	+	NR	+
OEA	NR	+	-	-	+	-	0/2	NR	-	+	-	NR	-	-	+	-	NR	+
Broad nasal bridge	+	-	-	+	-	-	0/2	-	-	+	+	NR	-	-	+	-	+	+
Hypoplasic nostrils	-	-	-	+	+	-	0/2	-	-	-	-	NR	+	-	-	+	-	-
Long Filtrum	+	+	-	+	+	-	0/2	+	-	-	-	+	-	+	+	-	-	+
High palate	NR	+	+	+	BU	NR	+/-	NR	-	+	-	NR	+	NR	NR	+	NR	+
Micro/retrognathia	+	+	+	+	NR	+	2/2	+	-	+	+	NR	NR	+	+	+	+	+
Dysmorphic ears	+	+	-	+	+	NR	0/2	-	-	-	-	NR	+	+	+	+	+	+
CHD	+	-	-	+	-	-	+/-	-	+	+	-	+	+	-	+	-	-	-
GTA	-	NR	NR	+	-	-	-/+	-	+	-	-	NR	NR	-	+	-	-	-
Limb abnormalities	-	-	+	+	+	+	+/-	-	-	+	+	NR	+	+	+	+	NR	+
CH	+	+	-	+	-	-	0/2	+	-	-	-	NR	NR	NR	NR	NR	-	-
PD/MR	NA	+	+	+	+	+	2/2	+	-	+	+	+	+	+	+	+	+	+
Abnormal Language	NA	+	NR	+	+	NR	NR	NA	NR	+	-	NR	+	NR	NR	+	NR	+

^a: 46,XY,der(22)t(1;22)(q42;p12); ^b: 46,XX,der(10)t(1;10)(q41;q26); ^c: 46,XX,der(13)t(1;13)(q42;q34); ^d: 46,XY,der(4)t(1;4)(q41;q34); ^e: 46,XY,der(4)t(1;4)(q42;q35); ^f: 46,XY,der(15)t(1;15)(q42;qter); ^g: 46,XX,der(15)t(1;15)(q42,1;p11.1); ^h: 46,XX,der(8)t(1;8)(q42.2;p23.3) at amniocentesis; ⁱ: 46,XX,der(15)t(1;15)(q44;p12); ^j: 46,XX,dup(1)(q44q42), ^k: 46,XX,der(8)t(1;8)(q41;p23.3) ^l: 46,XX,inv dup(1)(q41-q44); ^m: 46,XY,der(9)t(1;9)(qter-q41::q34.3-pter); ⁿ: 46,XY,der(13)t(1;13)(q41;p12) ^o: 46,XY,der(11)t(1;11)(q41;p15.5)mat; ^p: 46,XY,der(3)t(1;3)(q41;p26.3); ^q: microcephaly; aCGH: Array Comparative Genomic Hybridization; BU: Bifid Uvula; CA: Cortical Atrophy; CH: Capillary Hemangiomas; CHD: Congenital Heart Disease; CNSA: Central Nervous System Abnormalities; DSPF: Down Slanting Palpebral Fissures; F: Female; FISH: Fluorescent in situ hybridization; GTA: Genitourinary Track Abnormalities; HDMA: high density microarray; K: Karyotype with banding techniques; M: Male, m: months; mat: maternal; MCB: MultiColor Banding; PD/MR: Psychomotor Delay/Mental Retardation; NA: Non Applicable; NR: Non Reported; OEA: Other Eye Abnormalities; pat: paternal; PMM: Polymorphic Microsatellite Markers; PGD: Postnatal Growth Delay; T/DS: Thick/Down Slanting; VD: Ventricular Dilatation; y: years; WCM: Wide Cisterna Magna; +: feature present; -: feature absent.

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ISSN: 1755-8794

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