Partial trisomy 9p and 14q microduplication in a patient with growth retardation: a case report and review of the literature

BackgroundTrisomy is a common chromosomal aberration, which usually presents with similar phenotypic abnormalities and developmental delay. Although defined as chromosome abnormalities with recognized symptoms including growth retardation, trisomy 9p and trisomy 14q have been rarely reported to occur at the same time.Case presentationHere, we describe a 16-year-old adolescent female affected by developmental delay and mild intellectual disability. She was confirmed to have both partial trisomy 9p (p24.3-p23) and 14q11.2 microduplication by chromosome microarray analysis (CMA). It is speculated that the extra chromosome in the patient may be a derivative 14 chromosome inherited from the parent after 3:1 disjunction during meiosis. The extra 9p segment proves to be pathogenic while the duplicated 14q11.2 remains indefinite.ConclusionsFurther studies are needed to assign the genes responsible for the developmental delay and craniofacial dysmorphisms and appoint dosage-sensitive genes of chromosome 9p.

De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation

Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old Ecuadorian girl with Trisomy 9p syndrome. Although her phenotype shares characteristics of Noonan syndrome, Giemsa trypsin banding technique shows there is an extra chromosomal segment on chromosome 14, and array analysis shows that it belongs to a duplication of 38 Mb of 9p13.1p24.3. Fluorescence in situ hybridization analysis detected three signals from 9p chromosome. The duplication is de novo, being another unique case of the few reported in the literature.

A systematic clinical review of prenatally diagnosed tetrasomy 9p

Tetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p thus far and to identify ultrasound phenotypes that may be suggestive of this specific syndrome. A PubMed database search was done in February 2018 without any restriction of publication date orjournals, with the use of the following keywords: tetrasomy 9p, tetrasomy 9p prenatal, mosaic tetrasomy 9p, mosaic tetrasomy 9p prenatal, isochromosome 9p, duplication 9p prenatal, trisomy 9p prenatal. Reported cases were included if the clinical presentation and diagnostic approach of each case was clearly described. The most common characteristics of prenatally-detected tetrasomy 9p are intrauterine growth retardation (IUGR, 57.0%), central nervous system (CNS) abnormalities (59.0%), skeletal anomalies (29.0%), genitourinary and renal anomalies (29.0%) and cardiac defects (29.0%). The phenotypic spectrum of tetrasomy 9p is rather unspecific as these findings are commonly associated with other chromosome anomalies, as well as microdeletion/microduplication or monogenic syndromes. The combination of early fetal morphology and diagnostic genetic testing enables a definite tetrasomy 9p diagnosis and effective further pregnancy management.

Choroidal artery embolization in the management of cerebrospinal fluid overproduction: case report and review of the literature

Diffuse villous hyperplasia of the choroid plexus (DVHCP) is a rare cause of communicating hydrocephalus. DVHCP may be diagnosed radiographically and through histological evaluation. It may be associated with genetic abnormalities, particularly involving chromosome 9. Due to CSF overproduction, patients with DVHCP often fail management with shunting alone and may require adjuvant interventions. The authors present the case of a child with partial trisomy 9p and delayed diagnosis of hydrocephalus with radiographic evidence of DVHCP who was successfully managed with ventriculoperitoneal shunt (VPS) placement, adjuvant bilateral endoscopic choroid plexus coagulation (CPC), and the novel application of anterior choroidal artery embolization. In addition, a systematic MEDLINE search was conducted using the keywords “diffuse villous hyperplasia,” “choroid plexus hypertrophy,” and “idiopathic cerebrospinal fluid overproduction.” Clinicopathological characteristics and outcomes of the present case were reviewed and compared to those in the literature.A 14-month-old girl with partial trisomy 9p presented with macrocephaly and radiographic evidence of communicating hydrocephalus and DVHCP. Ventriculoperitoneal shunting resulted in distal failure due to inadequate CSF absorption, and ventriculoatrial shunt (VAS) placement was not possible due to multiple cardiac anomalies. Daily CSF production was reduced via endoscopic third ventriculostomy and bilateral CPC, followed by distal choroidal artery embolization, enabling VPS re-internalization. The embolization was complicated by radiographic evidence of an iatrogenic cerebral infarct, but this was clinically occult. Thirty-two additional cases of communicating hydrocephalus due to DVHCP are reported in the literature: 27 pediatric, 3 adult, and 2 postmortem. Genetic abnormalities were noted in 14, with 7 (50%) involving chromosome 9. Twelve patients underwent plexectomy (9 bilateral, 2 unilateral, 1 partial), and 10 underwent CPC (4 bilateral, 3 unilateral, and 3 unspecified), with or without shunting. Eight patients were successfully managed with shunting alone (6 VASs, 2 VPSs), and none underwent arterial embolization.DVHCP is a rare cause of communicating hydrocephalus that may be associated with genetic abnormalities. A thorough review of the literature highlights diagnostic criteria and interventional options involved in managing this cause of CSF overproduction. The present case demonstrates that angiographic confirmation of prominent choroidal arteries may contribute to the diagnosis DVHCP. In addition, embolization of the distal choroidal arteries may be considered as a potential adjuvant treatment in patients for whom conventional treatments have failed or are not feasible.

Trisomía parcial 9p derivada de una translocación recíproca 9;15, materna. Reporte de casos

Objectives: to highlight the importance of performing karyotype in children with congenital malformations in order to have a confirmatory diagnosis, in parents to exclude the possibility of being carriers of chromosomal abnormalities and perform the genetic counseling. Clinical cases description: Female patient with 3 years and 2 months old to whom karyotype was performed by global neurodevelopmental delay and microcephaly, and her mother with 34 years old without any clinical manifestations, to both patients, lymphocyte culture and chromosomal analysis with a High Resolution Banding techniques GTG and C were performed. The mother’s karyotype was 46,XX,t(9;15)(q10;q10)(p10;p10),add14p. The father’s karyotype was normal, 46,XY, and the girl’s karyotype resulted in a pure Trisomy 9p: 47,XX,+del(9)(q11). Discussion: This chromosomal rearrangement in mother included a nonhomologous reciprocal translocation between the long arms of pair chromosomes 9 and 15 and between the short arms of the same chromosomes, additional to it, an unknown origin material was also observed in short arm from one chromosome of the 14 pair. In meiosis of this type of rearrangement, the father’s normal homologous chromosomes are paired with the mother’s translocated chromosomes and as a result of 3:1 segregation a gamete with one chromosome else was originated that after fertilization resulted in an unbalanced translocation confirming the pure trisomy in the patient.