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Table 1 Comparison of clinical phenotypes of the index patients with a partial trisomy 9p listed in order of the duplicated area of chromosome 9

From: Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Refpatientsduplicated fragmentSexAge at examinationDelayed developmentMental retardationTypical faceaCongenital heart defectTypical limbsbsize of the duplicationother means of the analysis
Cuoco C,et al. [8]case2p12~p24F15 years+++ + banding (QFQ, RBA, C)
case5p12~p24F26 years+ + + banding (QFQ), DaDAPI, C)
Motegi T, et al. [9]casep12~p24M3 months+ + +  
Tsezou A, et al. [10]case1p12~p24M10 months+ + + FISH/CGH
case2M6 months+ + + FISH/CGH
Park IY, et al. [11]casep13~p24Mnewborn+ + + FISH
Phelan MC, et al. [12]casep13~p24M5.5 months+moderate+    
Temtamy SA et al. [13]case19pF4 years and 10 months+severe+ + FISH
case2p21~p24M8 years+severe+ + FISH
case3p21~p24M7 years and 5 months+++ + FISH
case49pF1 year and 7 months+++ + FISH
case59pF5 years+++ + FISH
Haddad BR, et al. [4]case1p22~p24F9 years low normal+ + FISH
case2M44 years low normal+++ FISH
Achkar WA, et al. [14]casep22~p24.2F20 years+++ + FISH/aMCB
Our patientcasep23~p24.3M (fetus)24 weeks  ++ 11.8 MbSNP-array
Guilherme RS, et al. [15]case1p24.3~q21.11M17 years+++ +69.9 MbFISH/SNP-array
case2p24.3~q21.11F6 years+++ +69.9 MbFISH/SNP-array
case3p24.3~q13F6 years and 9 months+++ +68.2 MbFISH/SNP-array
case4p24.3~q13M17 years+++ +67.9 MbFISH/SNP-array
case5p24.3~q13F6 years+++ +67.9 MbFISH/SNP-array
  1. a Typical face indicates microcephaly, large anterior fontanelle, bulbous nose with nasal bridge, ptosis, deep set eyes, narrow palpebral fissures, apparent hypertelorism, low set ears, short philtrum, downturned mouth, jaw hypoplasia, short and wide neck. b Typical limb includes cubitus valgus, bilateral clinodactyly of the fifth finger, brachydactyly, short hands and feet, flat feet, clubfeet