Mosaic trisomy 22: Report of a patient with normal intelligence

Abstract

Mosaic trisomy 22 is a rare chromosomal disorder. The estimated incidence of mosaic and non-mosaic trisomies 22 in spontaneous abortions and in CVS would range from 9 to 20 cases per 100,000 pregnancies [Wolstenholme, 1996]. The characteristic features are growth retardation (intrauterine growth retardation, failure to thrive, short stature), constant MR, hemidystrophy, and webbing of the neck. Frequent findings include ocular and cutaneous pigmentary disorders and craniofacial anomalies such as macrocephaly, prominent forehead, midface hypoplasia, hypertelorism, drooping eyelids, upslanted palpebral fissures, epicanthal folds, proptosis, hearing loss, dysplastic ears, preauricular tags/sinus, flat nasal bridge, short nose, smooth long philtrum, small mouth, micrognathia, cleft palate, and notched central upper incisors. Limb anomalies are also common and include cubitus valgus, clinodactyly, brachydactyly, syndactyly, abnormally long fingers or absent fingers and toes, absent/hypoplastic/ dysplastic nails, and hypermobile joints. Other anomalies include congenital heart defects, kidney, and genital disorders De Pater et al., 1997;Basaran et al., 2001]. All the cases reported in the literature susceptible to intellectual evaluation present with MR Osztovics and Ivady, 1977;Pagon et al., 1977Pagon et al., , 1979Dulitzky et al., 1981;Wertelecki et al., 1986;Lessick et al., 1988;Lund and Tranebjaerg, 1990;Woods et al., 1994;Crowe et al., 1997;de Pater et al., 1997;Basaran et al., 2001;Ruiter et al., 2003]. We report a 5-year-old girl with characteristic features and normal developmental milestones and intelligence.The proposita is a 5-year-10-month-old WF born to a 35-yearold father and a 26-year-old mother. The parents are healthy, nonconsanguineous, and their family history is negative for congenital anomalies. The mother has had two other pregnancies with reportedly normal sons. The proband was born full term, at home with midwife assistance, after an uncomplicated pregnancy. She was SGA with a BW of 1,800 g (2nd centile). At age 3 months she underwent closed surgery for a severe pulmonary valve stenosis. At age 18 months she was diagnosed with a congenital hemihypertrophy with the right leg being 2.3 cm longer on the scanogram. Renal ultrasounds had been negative for Wilms tumor or any other abnormalities. She has had multiple respiratory illnesses, including asthma, Grant sponsor: Fazio-Lacalle family.

Is trisomy 14 mosaic a clinically recognizable syndrome?—Case report and review

“…Common findings in these patients were mental retardation, dysmorphisms, asymmetrical features and skin pigmentary anomalies in some. This has been the experience of many other geneticists [Donnai et al, 1998;Devriendt and Fryns, 2004;Dyer, 2007] as well as our own [Lacassie et al, 1993;Florez and Lacassie, 2005]. Even though the clinical manifestations found in our patient are consistent with the previous reported patients, we think that most of the findings are suggestive of a ''general chromosomal mosaic syndrome'' rather than a specific ''trisomy 14 mosaic syndrome''.…”

Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation

“…In contrast with nonmosaic trisomy 22, long-term survival can be expected [1]. One patient has been reported to have normal intelligence [16]. Table 1 comparatively evaluates the clinical characteristics of our patient with their respective prevalence in the literature.…”

Trisomía 22 en un recién nacido de 39 semanas

“…Adicionalmente, se han descrito casos de trisomía 22 tipo mosaico asociado a enfermedad de Hirschprung, alteraciones anatómicas a nivel del oído interno y tres casos de pacientes con desarrollo cognitivo normal (18,(21)(22)(23). Por consiguiente, es posible que existan casos de trisomía 22 tipo mosaico con mínimos hallazgos al examen físico y desarrollo cognitivo adecuado que no sean diagnosticados (24).…”