Mosaic cri-du-chat syndrome in a girl with a mild phenotype

Abstract

We report on the clinical observation of a girl patient with few signs of cri-du-chat syndrome. The chromosomal analysis in lymphocyte culture showed 46,XX,del(5)(p15.3) in 38% of cells. Psychological tests revealed motor, perceptive and visual-spatial problems, as well as immaturity and emotional dependence. The phoniatric evaluation showed poor vocabulary, difficulty with repeating words or numbers in sequence, and better receptive than expressive language. The spectrographic measurements showed disturbance of fundamental frequency (F0) in vocal pronunciation. The anatomic findings of the laryngoscopic evaluation were normal, indicating that the voice and speech problems were functional disorders. The present case revealed moderate clinical signs and vocal disturbance associated with a low percentage of 5p- cells and the breakpoint at 5p15.3. The short terminal deletion with a possible loss of the critical region for cat-like cry and the presence of a normal cell line, explain the cry not so typical at birth (weak but not high-pitched), the intermediate values of F0, and the moderate mental retardation. This case is compared with other mosaic 5p- patients reported in the literature.

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri‐du‐chat syndrome in addition to a partial duplication of CTNND2

“…Another example of a mild phenotype is mosaicism for the standard 5p deletion. Moreira et al [] presented on a 10‐year‐old girl, with the 5p15.3 deletion in 38% of her cells. Although she has slow speech and learning disabilities, she is functioning at a mildly impaired cognitive level [Moreira et al, ].…”

“…Moreira et al [] presented on a 10‐year‐old girl, with the 5p15.3 deletion in 38% of her cells. Although she has slow speech and learning disabilities, she is functioning at a mildly impaired cognitive level [Moreira et al, ]. Double pericentric inversions of chromosome 5p are rare; however one case has been reported in the literature.…”

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients

“…Moreover, the deletion size is associated with the clinical presentation, with smaller deletions leading to milder phenotypes, as observed in Patient 1, who exhibited mild facial dysmorphism and mild intellectual disability. In particular, individuals with a deletion of 5p15.1 or who exhibit mosaicism are less affected [ 14 , 15 ].…”

“…Those who have smaller deletions with breakpoints in 5p15.3 exhibit less significant problems, as shown in Patient 1, who exhibited milder facial dysmorphisms and a low degree of intellectual disability. In particular, individuals with a 5p15.1 deletion or who exhibit mosaicism are less affected [ 14 , 15 ]. Zhang et al [ 18 ] have conducted a study of three multigenerational families carrying 5p terminal deletions of different sizes (ranging from 4.79 to 13.52 Mb) transmitted in an autosomal dominant manner and have observed that this familial deletion is a rare presentation displaying intra- and interfamilial phenotypic variability.…”

Síndrome de Cri du chat: primer reporte en mosaico en el suroccidente colombiano

“…La correlación genotipo-fenotipo en 62 pacientes con deleciones terminales destacó una relación entre la gravedad de la manifestación clínica y el retraso psicomotor, con el tamaño de la deleción [8]. Moreira y colaboradores describieron en 2008 un caso de una niña de 10 años que presentó deleción terminal 5p15.3 en mosaico con una línea celular normal, y quien no manifestó el llanto característico de maullido de gato al momento de su nacimiento, sino un llanto débil pero no agudo, por lo que se concluyó que a pesar de la pérdida de la región crítica del Cri du chat, la presencia de una línea celular normal podía contribuir al fenotipo leve [22]. Según lo anterior, el grado de mosaicismo alto podría también explicar el hecho de que nuestra paciente no presentara llanto de maullido de gato.…”