Ann Lab Med.  2013 Jan;33(1):69-74. 10.3343/alm.2013.33.1.69.

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

• Kim YH
• Kim HS
• Ryoo NH
• Ha JS

• KMID: 1781301
• DOI: http://doi.org/10.3343/alm.2013.33.1.69

Abstract

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.

Keyword

Trisomy 4p; Ttrisomy 14q; Translocation (4;14)

MeSH Terms

Abnormalities, Multiple/*genetics
Child
Child, Preschool
*Chromosomes, Human, Pair 14
*Chromosomes, Human, Pair 4
Female
Humans
Karyotyping
Translocation, Genetic
*Trisomy

Figure

• 

  Fig. 1 Partial karyotypes showing chromosome pairs 4 and 14, which are involved in the translocation. Patients in both cases had an extra der(14)t(4;14)(p15.3;q12) (arrowheads), which was found to be inherited as a consequence of an unbalanced 3:1 segregation from a carrier mother who had a balanced 46,XX,t(4;14)(p15.3;q12) translocation. Arrows indicate the breakpoints on each chromosome (GTG banding, 550 bands).

• 

  Fig. 2 Microarray results for both cases. (A) Case 1 had an approximately 19 megabase (Mb) gain from 4pter to p15.31 (19,350,350 bp point) and an approximately 31 Mb gain from 14pter to q12 (31, 088,843 bp point). (B) Case 2 had an approximately 19 Mb gain from 4pter to p15.31 (19,351,869 bp point) and an approximately 31 Mb gain from 14pter to q12 (31,098,692 bp point). Arrowheads indicate segments with a signal gain in each chromosome plot (Affymetrix Cytogenetics 2.7 M array).Abbreviation: Chr, chromosome.

• 

  Fig. 3 FISH results showing partial trisomy of 4p. Three orange signals for 4p16.3 were found on 2 chromosome 4p (arrows) and on a der(14) chromosome (arrowheads) in both patients (A, B). FISH analysis was performed using a dual color, dual fusion fibroblast growth factor receptor 3 on 4p 16.3 (orange)/immunoglobulin heavy chain on 14q32 (green) probe for detection of A B trisomy 4p.

• 

  Fig. 4 The abnormal toes of case 2. The fourth toes on both feet were short, and the big toes were relatively thick.

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